Condition: Chorea Acanthocytosis Syndrome
rs1400127478
in
VPS13A
gene and
Chorea Acanthocytosis Syndrome
PMID 12404112
2002 Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
PMID 11381253
2001 A conserved sorting-associated protein is mutant in chorea-acanthocytosis.