Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk

The lack of functional evidence for the majority of missense variants limits their clinical interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch syndrome (LS), one of the most highly prevalent cancer syndromes, nearly 90% of clinically observed missense varian...

Descripción completa

Detalles Bibliográficos
Autores principales: Jia, Xiaoyan, Burugula, Bala Bharathi, Chen, Victor, Lemons, Rosemary M., Jayakody, Sajini, Maksutova, Mariam, Kitzman, Jacob O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820803/
https://www.ncbi.nlm.nih.gov/pubmed/33357406
http://dx.doi.org/10.1016/j.ajhg.2020.12.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7820803/
https://www.ncbi.nlm.nih.gov/pubmed/33357406
http://dx.doi.org/10.1016/j.ajhg.2020.12.003

Ejemplares similares