半面阳光 (2025-06-30 23:49):
#paper DOI: 10.1002/humu.24051. Hum Mutat 2020, AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants. 这篇文章介绍了基于ACMG指南判断PVS1(very strong pathogenicity)类变异的自动化检索工具。
AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants
翻译
Abstract: No abstract available.
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