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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo...

詳細記述

保存先:
書誌詳細
出版年:Genome Med
主要な著者: Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5704398/
https://ncbi.nlm.nih.gov/pubmed/29179772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0498-x
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