AutismKB 2.0

Annotation Detail for ATP6V0A1


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Basic Information Top
Gene Symbol:ATP6V0A1 ( ATP6N1,ATP6N1A,DKFZp781J1951,Stv1,VPP1,Vph1,a1 )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a1
Band: 17q21.2
Quick LinksEntrez ID:535; OMIM: 192130; Uniprot ID:VPP1_HUMAN; ENSEMBL ID: ENSG00000033627; HGNC ID: 865
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
hsa04145Phagosome
hsa05120Epithelial cell signaling in Helicobacter pylori infection
hsa04966Collecting duct acid secretion
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
hsa05110Vibrio cholerae infection
Pathway IDPathway Name
Signaling by Insulin receptor
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of ATP6V0A1 mRNAincreases expression 19933214
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of ATP6V0A1 mRNAdecreases expression 18648102
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ATP6V0A1 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATP6V0A1 mRNAaffects expression 16483693
D016572 Cyclosporine Cyclosporine results in decreased expression of ATP6V0A1 mRNAdecreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of ATP6V0A1 mRNAdecreases expression 18042831
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ATP6V0A1 mRNAaffects cotreatment|increases expression 17942748
D007657 Ketone Bodies Ketone Bodies results in increased expression of ATP6V0A1 mRNAincreases expression 16807920
C041786 palm oil palm oil results in decreased expression of ATP6V0A1 mRNAdecreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of ATP6V0A1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of ATP6V0A1 mRNAincreases expression 19482888
C006253 pirinixic acid pirinixic acid results in decreased expression of ATP6V0A1 mRNAdecreases expression 17426115
D012645 Selenomethionine Selenomethionine affects the expression of ATP6V0A1 mRNAaffects expression 17222674
D018038 Sodium Selenite Sodium Selenite results in decreased expression of ATP6V0A1 mRNAdecreases expression 18175754
C025462 sulindac sulfide sulindac sulfide results in increased expression of ATP6V0A1 mRNAincreases expression 16184548
D013629 Tamoxifen Tamoxifen results in increased expression of ATP6V0A1 mRNAincreases expression 15590111
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of ATP6V0A1 mRNAaffects binding|increases expression 16214954
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ATP6V0A1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ATP6V0A1 mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.5814745880
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 14.397525203
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 14.396195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 14.3915322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9717505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.1218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8114692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.753712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 17.4217620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 17.4216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 17.4216835633
MESH:D000544 Alzheimer Disease sulindac sulfide 3.0918759972
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9511748828
MESH:D001161 Arteriosclerosis Dietary Fats 9.9515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 9.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6615885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.0511289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.7819483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.7812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7615746008
MESH:D001943 Breast Neoplasms Dietary Fats 1.8320435547
MESH:D001943 Breast Neoplasms Tamoxifen 1.8311161223 16818667 15668708 19066611 19011961 16202921 19115204 19289846 17893378 19155303 19200415 19142967 19084267 18855134 20390343 18629630 19189212 18997820 20544844 18984771 20859285 18821012 19221464 18425577 19288272 20065188 20135344 18351453 19189210 20005174 21152245 19487384 17261762 16873071 15565566 19059307 18815881 17242785 21138602 19410462 16273361 19244106 19103187 17440819 17049068
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8016835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.5219066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.597296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.591701930 6705139 20007298 20935162 17173139
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.5916924424
MESH:D002289 Carcinoma, Non-Small-Cell Lung sulindac sulfide 3.4512391285
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.687296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.6217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3718850075 18670907 16120746
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.6314694615
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.587505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.5812371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.264080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 19.239022650 19486331
MESH:D002779 Cholestasis Cyclosporine 19.2319486331
MESH:D002779 Cholestasis Ethinyl Estradiol 19.2317110522 16919318 17333356 17681005 15861022 11677210 16105132
MESH:D002779 Cholestasis pirinixic acid 19.2319176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.7615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.108697196 15340226 16354765 12621046 15668235
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 9.2015095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.2014669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3819031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.8218759878 8970840 12868966 11298694 2524372 14531868 8156756 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4318249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.502952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.7816285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.4819279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.029653073 16192314 8291058 9022650 18648102 9328219 11289319 6679447 18692083 1440618 6482804 7440962 18289764
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 9.0221346803
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.0215131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.0220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4518367378
MESH:D004421 Dystonia Phenobarbital 4.011851702
MESH:D004487 Edema pirinixic acid 6.5512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9318230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.9812538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.9819031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.0519155303 16202921 17893378 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0210568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.123659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.903922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.8920417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.546401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.267750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.043659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.113581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver Cyclosporine 24.7119224547
MESH:D005234 Fatty Liver Dietary Fats 24.7118296743 17967931 19551842 19004024
MESH:D005234 Fatty Liver Ethinyl Estradiol 24.7115345470
MESH:D005234 Fatty Liver pirinixic acid 24.7120131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 24.7119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2416709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.056705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.5514745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.2019069698
MESH:D005355 Fibrosis Cyclosporine 14.8112639820 12168785
MESH:D005355 Fibrosis Dietary Fats 14.8118296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 14.8120067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.248708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.047505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3310048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5420558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.526705139
MESH:D006529 Hepatomegaly Phenobarbital 14.4716109766
MESH:D006529 Hepatomegaly pirinixic acid 14.4718467677 19176532 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 14.4716120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.088697196 18606429 16959395 15340226 16354765
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6021332399
MESH:D006943 Hyperglycemia pirinixic acid 3.1920558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6221332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 3.9515034207
MESH:D006973 Hypertension Cyclosporine 4.9510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.9518670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4917937319
MESH:D007249 Inflammation Dietary Fats 8.2820412841
MESH:D007249 Inflammation Tamoxifen 8.2819457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.2812878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 12.3518457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 12.3516306350
MESH:D007333 Insulin Resistance Sodium Selenite 12.3514714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.058074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4715604871
MESH:D007674 Kidney Diseases Cyclosporine 2.348314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 12.396582329
MESH:D007680 Kidney Neoplasms Cyclosporine 12.3912371664
MESH:D007680 Kidney Neoplasms Tamoxifen 12.3918625569
MESH:D008064 Lipidoses Tamoxifen 3.1617567588 15342952
MESH:D008103 Liver Cirrhosis Dietary Fats 6.6718296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.6721047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.209327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.3915474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.3918564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.3912878042
MESH:D008107 Liver Diseases Phenobarbital 2.1719363144
MESH:D008113 Liver Neoplasms Phenobarbital 10.6819812893 15975961 19482888 19073162 21047994 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 10.6816377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tamoxifen 10.6816684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.6816984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 9.806587162 3712494 598648 1399818
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 9.8018308698 1399818 6150874 2563599 17172636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.8012151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.2518625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2519555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.0614737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7819428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.6214580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.5819453300
MESH:D008545 Melanoma Tamoxifen 1.8819393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.2015990972
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8216801185
MESH:D009135 Muscular Diseases pirinixic acid 3.5216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0212213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9516411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5017484760
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.703581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.7019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5219410462
MESH:D009369 Neoplasms pirinixic acid 1.9517405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.0319196722 19189210 19200415
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4717954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2919348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2214600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.916679447
MESH:D009765 Obesity Dietary Fats 4.4420518802 19632207 16723640 21332399 20132043 18674790 11836018 17217161 18457598
MESH:D009765 Obesity pirinixic acid 4.4420558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.146482804 4026338
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 9.1414694615
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.053988306
MESH:D010018 Osteomalacia Phenobarbital 4.3817016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.4916965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.507296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.506228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011230 Precancerous Conditions Cyclosporine 8.9812371664
MESH:D011230 Precancerous Conditions Phenobarbital 8.982563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2111399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.2918760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.3316919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 4.5312752131
MESH:D011565 Psoriasis Cyclosporine 2.2316882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.3919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.383692021
MESH:D012640 Seizures Phenobarbital 2.693137016 11442880 4039156 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 4.846407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 11.6616709447
MESH:D013088 Spermatocele Tamoxifen 11.6616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0619457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.153712494 1399818 6582329 7505956 6587162
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.151399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.048074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.048653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 9.7214692618
MESH:D014594 Uterine Neoplasms sulindac sulfide 9.7218645019
MESH:D014605 Uveitis Cyclosporine 4.011336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5414671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
MESH:D015430 Weight Gain Dietary Fats 3.7416723640
MESH:D014985 Xerophthalmia Cyclosporine 4.4717120751
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
KEGG:05120 Epithelial cell signaling in Helicobacter pylori infection
KEGG:04142 Lysosome
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:04145 Phagosome
KEGG:05323 Rheumatoid arthritis
REACT:498 Signaling by Insulin receptor
REACT:15518 Transmembrane transport of small molecules
KEGG:05152 Tuberculosis
KEGG:05110 Vibrio cholerae infection
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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