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| Ataxia and cerebellar anomalies - narrow panel v0.5 | POMT1 |
Ellen McDonagh gene: POMT1 was added gene: POMT1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMT1 were set to 12369018 Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 |
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