Human PBX1 gene variation
收藏NIAID Data Ecosystem2026-05-10 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP659997
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资源简介：
This study aims to report a pediatric case of CAKUTHED caused by a de novo variant of the PBX1 gene, verify the pathogenicity of this variant through in vitro cellular experiments, expand the spectrum of PBX1 gene variants, and provide a reference basis for the molecular diagnosis and genetic counseling of similar clinical diseases.
创建时间：
2026-01-08
