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Functional assessment of missense variants of uncertain significance in the cancer susceptibility gene PALB2

Germline PALB2 pathogenic variants are associated with an increased lifetime risk for breast, pancreatic, and ovarian cancer. However, the interpretation of the pathogenicity of numerous PALB2 missense variants of uncertain significance (VUSs) identified in germline genetic testing remains a challen...

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Detalles Bibliográficos
Autores principales: Wu, Shijie, Qi, Lina, Chen, Huihui, Zhang, Kun, He, Jiapan, Guo, Xianan, Shen, Lu, Zhou, Yunxiang, Zhong, Xi, Zheng, Shu, Zhou, Jiaojiao, Chen, Yiding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296472/
https://www.ncbi.nlm.nih.gov/pubmed/35853885
http://dx.doi.org/10.1038/s41523-022-00454-6