Variant: rs74555752

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.