Individual ID | 18676167.01 |
---|---|
Pubmed ID | 18676167 |
Whose mosaic mutation | Male Patient |
Phenotypic Category | 3 |
Disease | Pyruvate carboxylase deficiency(view all the variants in this disease) |
OMIM ID | 266150 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
361 | 5091 | PC | 11 | 66619351 | 66619351 | Pyruvate carboxylase deficiency | RTPCR |