학술논문
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Document Type
article
Author
Source
Nature Genetics. 51(1)
Subject
Language
Abstract
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes with an excess of missense and/or likely gene-disruptive (LGD) mutations. Of these genes, 124 reach exome-wide significance (P