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Likely inborn error of metabolism v0.4 PMPCA Ellen McDonagh Added phenotypes slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia for gene: PMPCA
Publications for gene PMPCA were changed from PMID: 25808372; PMID: 26657514 to 26657514; 25808372
Likely inborn error of metabolism v0.4 PMPCA Ellen McDonagh gene: PMPCA was added
gene: PMPCA was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID: 25808372; PMID: 26657514
Phenotypes for gene: PMPCA were set to slowly progressive cerebellar ataxia; non-progressive cerebellar ataxia