Condition: Cholestasis
rs886043118 in
STAT1 gene and
Cholestasis
PMID 27117246 2018 A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.