Gene Mutations
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Records Return:
(2)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
PGK1 | 311800 | 311800 | Xq12 | ASP163VAL | | PHOSPHOGLYCERATE KINASE 1 | 1 |
PGK1 | 311800 | 311800 | Xq12 | LEU88PRO | 0005 | PGK MATSUE, NONSPHEROCYTIC HEMOLYTIC ANEMIA DUE TO | 1 |
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