clinvar-database：查询变异临床意义的基因组医学数据库

rain · 2026-02-15 14:58:26 · 22 次点击 · 0 条评论

Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.

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