KEGG   VARIANT: 10535v1
Entry
10535v1                      Variant                               
Name
RNASEH2A mutation
Type
Loss of function
Gene
RNASEH2A  ribonuclease H2 subunit A [KO:K10743]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606034
Network
nt06509  DNA replication
nt06520  CGAS-STING signaling
Disease
H00290  Aicardi-Goutieres syndrome
Reference
PMID:23592335
  Authors
Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ
  Title
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutieres syndrome.
  Journal
Hum Mutat 34:1066-70 (2013)
DOI:10.1002/humu.22336
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