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Blood functional assay for rapid clinical interpretation of germline TP53 variants

BACKGROUND: The interpretation of germline TP53 variants is critical to ensure appropriate medical management of patients with cancer and follow-up of variant carriers. This interpretation remains complex and is becoming a growing challenge considering the exponential increase in TP53 tests. We deve...

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Detalles Bibliográficos
Autores principales: Raad, Sabine, Rolain, Marion, Coutant, Sophie, Derambure, Céline, Lanos, Raphael, Charbonnier, Françoise, Bou, Jacqueline, Bouvignies, Emilie, Lienard, Gwendoline, Vasseur, Stéphanie, Farrell, Michael, Ingster, Olivier, Baert Desurmont, Stéphanie, Kasper, Edwige, Bougeard, Gaëlle, Frébourg, Thierry, Tournier, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639931/
https://www.ncbi.nlm.nih.gov/pubmed/33051313
http://dx.doi.org/10.1136/jmedgenet-2020-107059