Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Yasmin Soares de LimaCoral Arnau-CollellJenifer MuñozCristina Herrera-ParienteLeticia MoreiraTeresa OcañaMarcos Díaz-GaySebastià Franch-ExpósitoMiriam CuatrecasasSabela CarballalAnael Lopez-NovoLorena MorenoGuerau FernàndezAranzazu Díaz de BustamanteSophia PetersAnna K SommerIsabel SpierIris B A W Te PaskeYasmijn J van HerwaardenAntoni CastellsLuis BujandaGabriel CapellàVerena Steinke-LangeKhalid MahmoodJiHoon Eric JooJulie ArnoldSusan ParryFinlay A MacraeIngrid M WinshipChristophe RostyJoaquin CubiellaDaniel Rodríguez-AlcaldeElke Holinski-FederRicharda M de VoerDaniel D BuchananStefan AretzClara Ruiz-PonteLaura ValleFrancesc BalaguerLaia BonjochSergi Castellví-BelPublished in: Journal of medical genetics (2022)
variants affect protein function in the context of the MAPK pathway, a molecular hallmark in this disease.