Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans

Better methods are required to interpret the pathogenicity of disease-associated variants of uncertain significance (VUS), which cannot be actioned clinically. In this study, we explore the use of an animal model (Caenorhabditis elegans) for in vivo interpretation of missense VUS alleles of TMEM67,...

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Detalles Bibliográficos
Autores principales: Lange, Karen I, Best, Sunayna, Tsiropoulou, Sofia, Berry, Ian, Johnson, Colin A, Blacque, Oliver E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122650/
https://www.ncbi.nlm.nih.gov/pubmed/34964473
http://dx.doi.org/10.1093/hmg/ddab344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122650/
https://www.ncbi.nlm.nih.gov/pubmed/34964473
http://dx.doi.org/10.1093/hmg/ddab344

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