Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

Additional file 18 of Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools

Additional file 18

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Bibliographic Details
Main Author:	Yu-An Chen (176581) (author)
Other Authors:	Tzu-Hang Yuan (21579741) (author), Jia-Hsin Huang (6001340) (author), Yu-Bin Wang (3277728) (author), Tzu-Mao Hung (21579744) (author), Chien-Yu Chen (19044) (author), Pei-Lung Chen (231490) (author), Jacob Shujui Hsu (13761994) (author)
Published:	2025
Subjects:	Medicine Genetics Biotechnology Sociology Cancer Mental Health Infectious Diseases Virology Space Science Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified Information Systems not elsewhere classified Variant annotation HGVS nomenclature ClinVar Variant interpretation ACMG guideline
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