KEGG   VARIANT: 55120v1
Entry
55120v1                      Variant                               
Name
FANCL mutation
Type
Loss of function
Gene
FANCL  FA complementation group L [KO:K10606]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608111
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
  Authors
Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O
  Title
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
  Journal
Hum Mutat 36:562-8 (2015)
DOI:10.1002/humu.22784
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