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Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

While genes with an excess of de novo mutations (DNMs) have been identified in children with neurodevelopmental disorders (NDDs), few studies focus on DNM patterns where the sex of affected children is examined separately. We considered ∼8,825 sequenced parent-child trios (n ∼26,475 individuals) and...

詳細記述

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書誌詳細
出版年:Am J Hum Genet
主要な著者: Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904808/
https://ncbi.nlm.nih.gov/pubmed/31785789
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.11.003
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