Loss-of-function variants in HIVEP2 are a cause of intellectual disability

Intellectual disability (ID) affects 2–3% of the population. In the past, many genetic causes of ID remained unidentified due to its vast heterogeneity. Recently, whole exome sequencing (WES) studies have shown that de novo variants underlie a significant portion of sporadic cases of ID. Applying WE...

全面介紹

Na minha lista:
書目詳細資料
發表在:Eur J Hum Genet
Main Authors: Srivastava, Siddharth, Engels, Hartmut, Schanze, Ina, Cremer, Kirsten, Wieland, Thomas, Menzel, Moritz, Schubach, Max, Biskup, Saskia, Kreiß, Martina, Endele, Sabine, Strom, Tim M, Wieczorek, Dagmar, Zenker, Martin, Gupta, Siddharth, Cohen, Julie, Zink, Alexander M, Naidu, SakkuBai
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
主題:
Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929870/
https://ncbi.nlm.nih.gov/pubmed/26153216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.151
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍