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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

CITE Title : Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants Personal Author(s) : Sok, Pagna;Sabo, Aniko;Almli, Lynn M.;Jenkins, Mary M.;Nembhard, Wendy N.;Agopian, A. J.;Bamshad, Michael J.;Blue, Elizabeth E.;Brody, Lawrence C.;Brown, Austin L.;Browne, Marilyn L.;Canfield, Mark A.;Carmichael, Suzan L.;Chong, Jessica X.;Dugan-Perez, Shannon;Feldkamp, Marcia L.;Finnell, Richard H.;Gibbs, Richard A.;Kay, Denise M.;Lei, Yunping;Meng, Qingchang;Moore, Cynthia A.;Mullikin, James C.;Muzny, Donna;Olshan, Andrew F.;Pangilinan, Faith;Reefhuis, Jennita;Romitti, Paul A.;Schraw, Jeremy M.;Shaw, Gary M.;Werler, Martha M.;Harpavat, Sanjiv;Lupo, Philip J.; Corporate Authors(s) : University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study Published Date : 6 2023;6-2023; Source : Am J Med Genet A. 191(6):1546-1556 URL : https://stacks.cdc.gov/view/cdc/151757 Sok, Pagna et al. (2023). Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants. 191(6). Sok, Pagna et al. "Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants" 191, no. 6 (2023) Sok, Pagna et al. "Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants" vol. 191, no. 6, 2023 Export RIS Citation Information.

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Sok, Pagna

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Sabo, Aniko

6 2023 | Am J Med Genet A. 191(6):1546-1556

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The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data fr...

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