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Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization
van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John-Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke,Volume:
36
Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.22798
Date:
July, 2015
File:
PDF, 430 KB
english, 2015