KEGG   VARIANT: 84464v1
Entry
84464v1                      Variant                               
Name
SLX4 mutation
Type
Loss of function
Gene
SLX4  SLX4 structure-specific endonuclease subunit [KO:K10484]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613278
Network
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:21240277
  Authors
Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP
  Title
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
  Journal
Nat Genet 43:138-41 (2011)
DOI:10.1038/ng.751
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