A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein by ubiquitin-proteasome pathway
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https://www.ncbi.nlm.nih.gov/bioproject/PRJNA834613
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资源简介：
We present a large family of 11 patients with DOA. To identify potential pathogenic mutations, whole exome sequencing (WES) was performed on the proband, a 35-year-old woman.
创建时间：
2022-05-03
