KEGG   VARIANT: 51729v1
Entry
51729v1                      Variant                               
Name
WBP11 mutation
Type
Loss of function
Gene
WBP11  WW domain binding protein 11 [KO:K12866]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 618083
Network
nt06547  Spliceosome
Disease
H01195  VACTERL/VATER association
Reference
  Authors
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemien GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G
  Title
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
  Journal
Hum Mol Genet 29:3662-3678 (2020)
DOI:10.1093/hmg/ddaa258
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