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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Publicado no:Nature
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha: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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