Article

The contribution of X-linked coding variation to severe developmental disorders

2020-03-23

Abstract excerpt

Over 130 X-linked genes have been robustly associated with developmental disorders (DDs), and X-linked causes have been hypothesised to underlie the higher DD rates in males. We evaluated the burden of X-linked coding variation in 11,046 DD patients, and found a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bia...

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Literature Corpus work: fb6b202f-6022-5523-adce-d321730e56a1
DOI: 10.1101/2020.03.18.20037960

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