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Ataxia and cerebellar anomalies - narrow panel v0.5 | POMK |
Ellen McDonagh gene: POMK was added gene: POMK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMK were set to 24925318 Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 |