A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies

Copy number variation (CNV) is of great significance in human evolution and disorders. Through tracing the parent-of-origin of de novo pathogenic CNVs, we are expected to investigate the relative contributions of germline genomic stability on reproductive health. In our study, short tandem repeat (S...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Ma, Ruiyu, Deng, Linbei, Xia, Yan, Wei, Xianda, Cao, Yingxi, Guo, Ruolan, Zhang, Rui, Guo, Jing, Liang, Desheng, Wu, Lingqian
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5359547/
https://ncbi.nlm.nih.gov/pubmed/28322228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44446
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados