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Translational plasticity facilitates the accumulation of nonsense genetic variants in the human population

Genetic variants that disrupt protein-coding DNA are ubiquitous in the human population, with about 100 such loss-of-function variants per individual. While most loss-of-function variants are rare, a subset have risen to high frequency and occur in a homozygous state in healthy individuals. It is un...

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Detalles Bibliográficos
Autores principales: Jagannathan, Sujatha, Bradley, Robert K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131816/
https://www.ncbi.nlm.nih.gov/pubmed/27646533
http://dx.doi.org/10.1101/gr.205070.116

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