Condition: SPINOCEREBELLAR ATAXIA, X-LINKED 1


rs397514619 in ATP2B3 gene and SPINOCEREBELLAR ATAXIA, X-LINKED 1 PMID 22912398 2012 Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.