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

Kj Van Der Velde, J Kuiper, Ba Thompson, Jp Plazzer, G Van Valkenhoef, M De Haan, Jd Jongbloed, C Wijmenga, Tj De Koning, Km Abbott, R Sinke, Ab Spurdle, F Macrae, Maurizio Genuardi, Rh Sijmons, Ma Swertz

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29 Citazioni (Scopus)

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Biochemistry, Genetics and Molecular Biology