KEGG   VARIANT: 57697v1
Entry
57697v1                      Variant                               
Name
FANCM mutation
Type
Loss of function
Gene
FANCM  FA complementation group M [KO:K10896]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609644
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
H00627  Premature ovarian failure
Reference
  Authors
Fouquet B, Pawlikowska P, Caburet S, Guigon C, Makinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M
  Title
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.
  Journal
Elife 6:e30490 (2017)
DOI:10.7554/eLife.30490
Reference
  Authors
Encarnacion JA, Cerezuela P, Espanol I, Garcia MR, Manso C, De la Fuente I, Garrigos N, Viney A, Minguillon J, Surralles J
  Title
Fanconi-like anemia related to a FANCM mutation.
  Journal
Eur J Med Genet 65:104399 (2022)
DOI:10.1016/j.ejmg.2021.104399
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