present in Gene: CTPS1
present in Chromosome: 1
Position on Chromosome: 41010160
Alleles of this Variant: G/C
rs145092287 in
CTPS1 gene and
IMMUNODEFICIENCY 24
PMID 27638562 2016 CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection.
PMID 24870241 2014 CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.