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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
BACKGROUND: Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significance (VUS), especially missense changes. RESULT: To...
Autores principales: | Scott, Anthony, Hernandez, Felicia, Chamberlin, Adam, Smith, Cathy, Karam, Rachid, Kitzman, Jacob O. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9773515/ https://www.ncbi.nlm.nih.gov/pubmed/36550560 http://dx.doi.org/10.1186/s13059-022-02839-z |
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