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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 |
| HSPB8 | 608014 | 621078 | 12q24.23 | c.515dupC (p.P173Sfs*43) | | MYOPATHY, MYOFIBRILLAR, 13, WITH RIMMED VACUOLES; MFM13 | 7 |
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