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 |
MPZ | 159440 | 118200 | 1q22 | ASP90GLU | 0002 | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1b | 1 |
MPZ | 159440 | 118200 | 1q22 | SER140THR | | CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1b | 1 |
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