WES on Alport symdrome patient
收藏NIAID Data Ecosystem2026-05-02 收录
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Analysis of the exome data of the examinee revealed a pathogenic variant in the COL4A5 gene: c.1517-1G>T
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2025-02-11

Analysis of the exome data of the examinee revealed a pathogenic variant in the COL4A5 gene: c.1517-1G>T