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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
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 |
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