A novel mutation of the EYA1 gene in a branchio-otic syndrome child
收藏NIAID Data Ecosystem2026-05-01 收录
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资源简介：
We recruited two generations of a Chinese family with BOS. Family history was obtained and detailed physical and hearing examinations were performed on all family members. Whole-exome sequencing (WES) was used to screen the candidate disease genes using phenolyzer software. Sanger sequencing was used for validation. The pathogenicity of the candidate mutations was analyzed.
创建时间：
2023-06-07
