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Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

The genetic basis of most human disease cannot be explained by common variants. One solution to this ‘missing heritability problem’ may be rare missense variants, which are individually scarce but collectively abundant. However, the phenotypic impact of rare variants is under-appreciated as gene fun...

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Detalles Bibliográficos
Autores principales: Zeng, Jingwei, Slodkowicz, Greg, James, Leo C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794091/
https://www.ncbi.nlm.nih.gov/pubmed/31613747
http://dx.doi.org/10.7554/eLife.48339

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