Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

BACKGROUND: Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic va...

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Detalles Bibliográficos
Autores principales: Wang, Ye, Wu, Xueli, Du, Liu, Zheng, Ju, Deng, Songqing, Bi, Xin, Chen, Qiuyan, Xie, Hongning, Férec, Claude, Cooper, David N., Luo, Yanmin, Fang, Qun, Chen, Jian-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784706/
https://www.ncbi.nlm.nih.gov/pubmed/29370840
http://dx.doi.org/10.1186/s40246-018-0135-9

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