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

Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a...

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Pubblicato in:Nat Commun
Autori principali: Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2021
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7840967/
https://ncbi.nlm.nih.gov/pubmed/33504798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-20852-3
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