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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 |
| CPT2 | 600650 | 255110 | 1p32 | SER113LEU | 0002 | CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET FORM | 1 |
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