遇见数据集

Mutations and variants identified in other genes for cystic and polycystic kidney disease.

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Figshare2015-12-02 更新2026-04-29 收录
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NGS data that demonstrate the power of the setup for parallel analysis of all genes known to date for cystic and polycystic kidney disease and related disorders in a single step.* Classification from PKD mutation database (ADPKD Mutation Database (http://pkdb.mayo.edu/)** classification taken from ARPKD/PKHD1 database (http://www.humgen.rwth-aachen.de); het—heterozygous; LH—likely hypomorphic; LP—likely pathogenic; HLP—highly likely pathogenic; DP—definitely pathogenic; PP—probably pathogenic; P—pathogenic.Mutations and variants identified in other genes for cystic and polycystic kidney disease.

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2015-12-02
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