Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

BACKGROUND: Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that some aberrant splicing variants, which are either not readily...

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Detalles Bibliográficos
Autores principales: Li, Qiang, Wang, Yiting, Pan, Yijun, Wang, Jia, Yu, Weishi, Wang, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188693/
https://www.ncbi.nlm.nih.gov/pubmed/34107977
http://dx.doi.org/10.1186/s12920-021-01008-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8188693/
https://www.ncbi.nlm.nih.gov/pubmed/34107977
http://dx.doi.org/10.1186/s12920-021-01008-8

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