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Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes

Single nucleotide variants (SNVs) within polyadenylation signals (PASs), a specific six-nucleotide sequence required for mRNA maturation, can impair RNA-level gene expression and cause human diseases. However, there is a lack of genome-wide investigation and systematic confirmation tools for identif...

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Detalles Bibliográficos
Autores principales: Chen, Meng, Wei, Ran, Wei, Gang, Xu, Mingqing, Su, Zhixi, Zhao, Chen, Ni, Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8092010/
https://www.ncbi.nlm.nih.gov/pubmed/33875481
http://dx.doi.org/10.1101/gr.270256.120