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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...

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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

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