KEGG   VARIANT: 83990v1
Entry
83990v1                      Variant                               
Name
BRIP1 mutation
Type
Loss of function
Gene
BRIP1  BRCA1 interacting DNA helicase 1 [KO:K15362]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605882
Network
nt06508  Interstrand crosslink repair
Disease
H00031  Breast cancer
H00238  Fanconi anemia
Reference
PMID:16116424
  Authors
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD
  Title
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
  Journal
Nat Genet 37:931-3 (2005)
DOI:10.1038/ng1624
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