VARIANT: 10459v1
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Entry
10459v1 Variant
Name
MAD2L2 mutation
Gene
MAD2L2
mitotic arrest deficient 2 like 2 [KO:
K13728
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
604094
Network
nt06508
Interstrand crosslink repair
Disease
H00238
Fanconi anemia
Reference
PMID:
27500492
Authors
Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socie G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J
Title
Biallelic inactivation of REV7 is associated with Fanconi anemia.
Journal
J Clin Invest 126:3580-4 (2016)
DOI:
10.1172/JCI88010
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integrated database retrieval system
