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pro vyhledávání: '"Baylor-Johns Hopkins Center for Mendelian Genomics"'
Autor:
David M Gordon, David Cunningham, Gloria Zender, Patrick J Lawrence, Jacqueline S Penaloza, Hui Lin, Sara M Fitzgerald-Butt, Katherine Myers, Tiffany Duong, Donald J Corsmeier, Jeffrey B Gaither, Harkness C Kuck, Saranga Wijeratne, Blythe Moreland, Benjamin J Kelly, Baylor-Johns Hopkins Center for Mendelian Genomics, Vidu Garg, Peter White, Kim L McBride
Publikováno v:
PLoS Genetics, Vol 18, Iss 6, p e1010236 (2022)
Congenital heart disease (CHD) is a common group of birth defects with a strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies of isolated CHD has been low. Pleiotropy, variable expressivity, and the
Externí odkaz:
https://doaj.org/article/6e68cf7a081a4dec8fa9470de632ba33