Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases

BACKGROUND: Anencephaly is a lethal neural tube defect (NTD). Although variants in several genes have been implicated in the development of anencephaly, a more complete picture of variants in the genome, especially de novo variants (DNVs), remains unresolved. We aim to identify DNVs that play an imp...

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Detalles Bibliográficos
Autores principales: Wang, Linlin, Ren, Aiguo, Tian, Tian, Li, Nan, Cao, Xuanye, Zhang, Peng, Jin, Lei, Li, Zhiwen, Shen, Yan, Zhang, Bo, Finnell, Richard H., Lei, Yunping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896715/
https://www.ncbi.nlm.nih.gov/pubmed/31849593
http://dx.doi.org/10.3389/fnins.2019.01285

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896715/
https://www.ncbi.nlm.nih.gov/pubmed/31849593
http://dx.doi.org/10.3389/fnins.2019.01285

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