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Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt,Slavica Trajkova,Matteo Rossi Sebastiano,E. Christopher Partridge,Fatima E. Abidi,Ashlyn Anderson,Muhammad Ansar,Stylianos E. Antonarakis,Azadeh Azadi,Ruxandra Bachmann-Gagescu,Andrea Bartuli,Caroline Benech,Jennifer L. Berkowitz,Michael J. Betti,Alfredo Brusco,Ashley Cannon,Giulia Caron,Yanmin Chen,Molly M. Crenshaw,Laurence Cuisset,Cynthia J. Curry,Hossein Darvish,Serwet Demirdas,Maria Descartes,Jessica Douglas,David A. Dyment,Houda Zghal Elloumi,Giuseppe Ermondi,Marie Faoucher,Emily G. Farrow,Stephanie A. Felker,Heather Fisher,Anna C. E. Hurst,Pascal Joset,Stanislav Kmoch, Benjamin R. Leadem,Marina Macchiaiolo,Martin Magner,Giorgia Mandrile,Francesca Mattioli,Megan McEown,Sarah K. Meadows,Livija Medne,Naomi J. L. Meeks,Sarah Montgomery,Melanie P. Napier,Marvin Natowicz,Kimberly M. Newberry,Marcello Niceta,Lenka Noskova,Catherine Nowak,Amanda G. Noyes,Matthew Osmond,Verdiana Pullano,Chloé Quélin,Simin Rahimi-Aliabadi,Anita Rauch,Sylvia Redon,Alexandre Reymond,Caitlin R. Schwager,Elizabeth A. Sellars,Angela Scheuerle, Elena Shukarova-Angelovska,Cara Skraban,Bonnie R. Sullivan,Marco Tartaglia,Isabelle Thiffault,Kevin Uguen,Luis A. Umaña,Yolande van Bever,Saskia N. van der Crabben,Marjon A. van Slegtenhorst,Quinten Waisfisz,Richard M. Myers,Gregory M. Cooper

medrxiv（2022）

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关键词
delay,protein-altering,x-linked
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