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.