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| Ataxia and cerebellar anomalies - narrow panel v0.5 | LARGE1 |
Ellen McDonagh gene: LARGE1 was added gene: LARGE1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to 17436019, 24709677 Phenotypes for gene: LARGE1 were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type |
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