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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 |
| PABPN1 | 602279 | 164300 | 14q11.2-q13 | (GCG)n EXPANSION, (GCG)8-13 | 0001 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY | 2 |
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