Journal article

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

K Joeri van der Velde, Joel Kuiper, Bryony A Thompson, John-Paul Plazzer, Gert van Valkenhoef, Mark de Haan, Jan DH Jongbloed, Cisca Wijmenga, Tom J de Koning, Kristin M Abbott, Richard Sinke, Amanda B Spurdle, Finlay Macrae, Maurizio Genuardi, Rolf H Sijmons, Morris A Swertz

Human Mutation | WILEY | Published : 2015