Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
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Published:2023-11
Issue:11
Volume:110
Page:1919-1937
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Nil Zelha, Deshwar Ashish R., Huang Yan, Barish Scott, Zhang Xi, Choufani Sanaa, Le Quesne Stabej Polona, Hayes Ian, Yap Patrick, Haldeman-Englert Chad, Wilson Carolyn, Prescott Trine, Tveten Kristian, Vøllo Arve, Haynes Devon, Wheeler Patricia G., Zon Jessica, Cytrynbaum Cheryl, Jobling Rebekah, Blyth Moira, Banka Siddharth, Afenjar Alexandra, Mignot Cyril, Robin-Renaldo Florence, Keren Boris, Kanca Oguz, Mao Xiao, Wegner Daniel J., Sisco Kathleen, Shinawi Marwan, Wangler Michael F., Weksberg Rosanna, Yamamoto Shinya, Costain GregoryORCID, Bellen Hugo J.
Subject
Genetics (clinical),Genetics
Cited by
1 articles.
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