Homo sapiens Genome sequencing. Homo sapiens
收藏NIAID Data Ecosystem2026-05-02 收录
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资源简介：
This study highlights a rare pathogenic variant of ELANE, which, to our knowledge, is the first case of the variant c.170C>A (p.Ala57Asp) of congenital neutropenia in mainland China, as well as a rare variant globally.
创建时间：
2024-07-21
