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Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variantsMarcy E Richardson, Megan Holdren, Terra Brannan, et al.
American Journal of Human Genetics|September 18, 2025
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variantsMarcy E Richardson, Megan F H Bishop, Megan A Holdren, et al.
American Journal of Human Genetics|February 28, 2024
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domainChunling Hu, Huaizhi Huang, Jie Na, et al.
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