Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR Gene and its implications for CNM formation at other autosomal loci

Sylvia Quemener, Jian Min Chen, Nadia Chuzhanova, Caroline Bénech, Teresa Casals, Milan Macek, Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Ourida Loumi, Taieb Messaoud, Harry Cuppens, Garry R. Cutting, Peter D. Stenson, Karine Giteau, Marie Pierre Audrézet, David N. Cooper, Claude Férec

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

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Medicine & Life Sciences