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 |
NUBPL | 613621 | 252010 | 14q12 | c.311T>C | | MITOCHONDRIAL COMPLEX I DEFICIENCY | 2 |
NUBPL | 613621 | 252010 | 14q12 | c.815-27T>C | | MITOCHONDRIAL COMPLEX I DEFICIENCY | 2 |
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