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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2021
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| Materias: | |
| 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 |