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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

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Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: Kanca, Oguz, Andrews, Jonathan C., Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R., Slavotinek, Anne M., Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W., Agrawal, Pankaj B., Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C. Christopher, Chung, Wendy K., Markello, Thomas C., Dobyns, William B., Adams, David R., Gahl, William A., Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Malicdan, May Christine V.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732524/
https://ncbi.nlm.nih.gov/pubmed/31491411
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.07.017
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