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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 |
| DBT | 248610 | 248600 | 1p31 | 2-BP DEL,AT | 0009 | MAPLE SYRUP URINE DISEASE, TYPE II | 1 |
| DBT | 248610 | 248600 | 1p31 | GLU163TER | | MAPLE SYRUP URINE DISEASE, TYPE II | 3 |
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