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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 |
| EMD | 300384 | 310300 | Xq28 | 1712insTGGGC | | EMERY-DREIFUSS MUSCULAR DYSTROPHY | 1 |
| EMD | 300384 | 310300 | Xq28 | 356delA | | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | 1 |
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