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Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer

Pathogenic constitutional genomic variants in the mismatch repair (MMR) genes are the drivers of Lynch syndrome; optimal variant interpretation is required for the management of suspected and confirmed cases. The International Society for Hereditary Gastrointestinal Tumours (InSiGHT) provides expert...

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Detalles Bibliográficos
Autores principales: Kaushik, Varun, Plazzer, John‐Paul, Macrae, Finlay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9744508/
https://www.ncbi.nlm.nih.gov/pubmed/36618447
http://dx.doi.org/10.1002/ggn2.10039