A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene

Next-generation sequencing is effective for the molecular diagnosis of genetic diseases. However, the identification of the clinical significance of synonymous variants remains a challenge. Our previous study showed that some synonymous variants in ATP7B gene produced splicing disruptions, leading t...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Xiaoying, Zhou, Wei, Wang, Chunli, Wang, Lan, Jin, Yu, Jia, Zhanjun, Liu, Zhifeng, Zheng, Bixia
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/PMC7947925/
https://www.ncbi.nlm.nih.gov/pubmed/33719328
http://dx.doi.org/10.3389/fgene.2020.592611

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947925/
https://www.ncbi.nlm.nih.gov/pubmed/33719328
http://dx.doi.org/10.3389/fgene.2020.592611

Ejemplares similares