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| Ataxia and cerebellar anomalies - narrow panel v0.5 | NPC1 |
Ellen McDonagh gene: NPC1 was added gene: NPC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220) |
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