Article

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

2018-05-04

Abstract excerpt

There are thousands of rare human disorders caused by a single deleterious, protein-coding genetic variant 1 . However, patients with the same genetic defect can have different clinical presentation 2–4 , and some individuals carrying known disease-causing variants can appear unaffected 5 . What explains these differences? Here, we show in a cohort of 6,987 children with heterogeneous severe neurodevelopmental...

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Literature Corpus work: 45e30f81-75cd-530f-a129-c8856a95b8d3
DOI: 10.1101/309070

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