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Gene Mutations
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| Records Return:
(1)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| POMGNT1 | 606822 | 253280 | 1p34.1 | IVS21+1G>T | | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIS), TYPE A, 3 | 1 |
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