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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Pubblicato in:Nature
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online: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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