KEGG   VARIANT: 4437v1
Entry
4437v1                      Variant                                
Name
MSH3 mutation
Type
Loss of function
Gene
MSH3  mutS homolog 3 [KO:K08736]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600887
Network
nt06503  Mismatch repair
Disease
H01025  Familial adenomatous polyposis
Reference
  Authors
Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S
  Title
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
  Journal
Am J Hum Genet 99:337-51 (2016)
DOI:10.1016/j.ajhg.2016.06.015
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