Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

Missense DNA variants have variable effects upon protein function. Consequently, interpreting their pathogenicity is challenging, especially when they are associated with disease variability. To determine the degree to which functional assays inform interpretation, we analyzed 48 CFTR missense varia...

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Publicado en:Am J Hum Genet
Main Authors: Raraigh, Karen S., Han, Sangwoo T., Davis, Emily, Evans, Taylor A., Pellicore, Matthew J., McCague, Allison F., Joynt, Anya T., Lu, Zhongzhou, Atalar, Melis, Sharma, Neeraj, Sheridan, Molly B., Sosnay, Patrick R., Cutting, Garry R.
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992123/
https://ncbi.nlm.nih.gov/pubmed/29805046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.003
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