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Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population

BACKGROUND: The role of synonymous single-nucleotide variants in human health and disease is poorly understood, yet evidence suggests that this class of “silent” genetic variation plays multiple regulatory roles in both transcription and translation. One mechanism by which synonymous codons direct a...

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Detalles Bibliográficos
Autores principales: Gaither, Jeffrey B S, Lammi, Grant E, Li, James L, Gordon, David M, Kuck, Harkness C, Kelly, Benjamin J, Fitch, James R, White, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023685/
https://www.ncbi.nlm.nih.gov/pubmed/33822938
http://dx.doi.org/10.1093/gigascience/giab023