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The ALPL Gene Variant Database

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国家生物信息中心2025-10-11 更新2025-03-15 收录
下载链接:
https://alplmutationdatabase.jku.at/
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资源简介:
The ALPL gene variant database is an open-access archive for interpretation of the clinical significance of variants reported in ALPL. The database contains coding and non-coding variants, including single nucleotide variants, insertions/deletions and structural variants affecting coding or non-coding sequences of ALPL. Each variant in the database is displayed with details explaining the corresponding pathogenicity, and all reported genotypes and phenotypes, including references.
提供机构:
Johannes Kepler University Linz
创建时间:
2024-07-16
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