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Additional file 1 of Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

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DataCite Commons2025-01-09 更新2025-05-07 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Identification_of_genetic_mechanisms_of_non-isolated_auditory_neuropathy_with_various_phenotypes_in_Chinese_families/28170236/1
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资源简介:
Supplementary Material 1: Supplementary Table 1. FDXR and TWNK missense mutations in this study. Supplementary Table 2. The classification of variants in FDXR and TWNK identified in our study based on ACMG/AMP criteria. Supplementary Table 3. Summary of clinical symptoms associated with non-isolated AN-related genes in detail

补充材料1: 补充表1. 本研究涉及的FDXR与TWNK基因错义突变。 补充表2. 本研究中基于ACMG/AMP标准对鉴定得到的FDXR和TWNK基因变异进行的分类。 补充表3. 与非孤立性AN相关基因关联的临床症状详细汇总。
提供机构:
figshare
创建时间:
2025-01-09
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