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    Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

    Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools by Yu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, Yu-Bin Wang, Tzu-Mao Hung, Chien-Yu Chen, Pei-Lung Chen, Jacob Shujui Hsu

    Published 2025-06-01
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