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 |
DKC1 | 300126 | 300126 | Xq28 | LEU37 DEL | 0002 | DYSKERATOSIS CONGENITA, X-LINKED | 2 |
DKC1 | 300126 | 305000 | Xq28 | THR66ALA | | DYSKERATOSIS CONGENITA, X-LINKED | 4 |
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