Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

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 presentations(2–4), and some individuals carrying known disease-causing variants can appear unaffected(5). What ex...

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Detaylı Bibliyografya
Yayımlandı:Nature
Asıl Yazarlar: Niemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui, Gecz, Jozef, Martin, Nicholas G., Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6726472/
https://ncbi.nlm.nih.gov/pubmed/30258228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-018-0566-4
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