遇见数据集

NMphenogen

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国家生物信息中心2026-08-23 更新2026-08-29 收录
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A curated database of 747 genes associated with neuromuscular genetic disorders, providing gene coordinates, associated diseases, inheritance patterns, clinical phenotypes, variant annotations, and links to external genomic and disease resources. It also includes phenotype-based disease prioritization and ACMG-guided variant classification tools.

创建时间:
2026-07-10
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