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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 |
| TTPA | 600415 | 277460 | 8q13.1-q13.3 | ARG221TRP | | ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY | 1 |
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