present in Gene: RNASEH2B
present in Chromosome: 13
Position on Chromosome: 50945470
Alleles of this Variant: T/G
rs74555752 in
RNASEH2B gene and
Aicardi-Goutieres Syndrome 2
PMID 21177858 2011 The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.