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 |
ALG6 | 604566 | 603147 | 1p22.3 | 897_899delAAT | | CONGENITAL DISORDER OF GLYCOSYLATION; TYPE Ic | 1 |
ALG6 | 604566 | 603147 | 1p22.3 | IVS7+2T>G | | CONGENITAL DISORDER OF GLYCOSYLATION; TYPE Ic | 1 |
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