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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

We combined de novo mutation (DNM) data from 10,927 cases of developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive mutations. Of these genes, 124 reach exome-wide significance (p < 5 × 10(−7)) for DNM. In...

詳細記述

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書誌詳細
出版年:Nat Genet
主要な著者: Coe, Bradley P., Stessman, Holly A.F., Sulovari, Arvis, Geisheker, Madeleine R., Bakken, Trygve E., Lake, Allison M., Dougherty, Joseph D., Lein, Ed S., Hormozdiari, Fereydoun, Bernier, Raphael A., Eichler, Evan E.
フォーマット: Artigo
言語:Inglês
出版事項: 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6309590/
https://ncbi.nlm.nih.gov/pubmed/30559488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41588-018-0288-4
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