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 |
NOTCH3 | 600276 | 125310 | 19p13.12 | ARG133CYS | 8 | CADASIL | 1 |
NOTCH3 | 600276 | 125310 | 19p13.12 | ARG141CYS | | CADASIL | 4 |
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