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Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications

SIMPLE SUMMARY: Variants of uncertain significance in the breast cancer susceptibility gene BRCA2 represent 50–80% of the results from genetic testing. These mutations may lead to the dysfunction of the gene, thus conferring breast cancer predisposition; however, because they are rare and their impa...

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Detalles Bibliográficos
Autores principales: Sessa, Gaetana, Ehlén, Åsa, von Nicolai, Catharina, Carreira, Aura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345083/
https://www.ncbi.nlm.nih.gov/pubmed/34359619
http://dx.doi.org/10.3390/cancers13153719