Condition: AICARDI-GOUTIERES SYNDROME 3
rs75328625 in
RNASEH2C gene and
AICARDI-GOUTIERES SYNDROME 3
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.
PMID 23322642 2013 Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
PMID 29150899 2018 p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
rs78464826 in
RNASEH2C;KAT5 gene and
AICARDI-GOUTIERES SYNDROME 3
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.