High-Frequency Exon Deletion of DNA Cross-Link Repair 1C Accounting for Severe Combined Immunodeficiency May Be Missed by Whole-Exome Sequencing

Next-generation sequencing (NGS) has been used to detect severe combined immunodeficiency (SCID) in patients, and some patients with DNA cross-link repair 1C (DCLRE1C) variants have been identified. Moreover, some compound variants, such as copy number variants (CNV) and single nucleotide variants (...

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Detalles Bibliográficos
Autores principales: Xiao, Feifan, Lu, Yulan, Wu, Bingbing, Liu, Bo, Li, Gang, Zhang, Ping, Zhou, Qinhua, Sun, Jinqiao, Wang, Huijun, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372405/
https://www.ncbi.nlm.nih.gov/pubmed/34421990
http://dx.doi.org/10.3389/fgene.2021.677748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372405/
https://www.ncbi.nlm.nih.gov/pubmed/34421990
http://dx.doi.org/10.3389/fgene.2021.677748

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