InSiGHT Group. Evaluation of CADD scores in curated mismatch repair gene variants yields a model for clinical validation and prioritization

Autor:	Genuardi, Maurizio, Kuiper, J, Thompson, Ba, Plazzer, Jp, Van Valkenhoef, G, De Haan, M, Jongbloed, Jd, Wijmenga, C, De Koning, Tj, Abbott, Km, Sinke, R, Spurdle, Ab, Macrae, F, Genuardi, M, Sijmons, Rh, Swertz, Ma, Van Der Velde, Kj
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	Lynch syndrome cumulative link model pathogenicity prediction variant classification Settore MED/03 - GENETICA MEDICA
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=od______2601::ccb10db4a24e3a45a31763f736fb38e0 http://hdl.handle.net/10807/65856 Zobrazit plný text záznamu