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Unclassified <i>GJB2</i> variants in Patients with NSHL.
Unclassified <i>GJB2</i> variants in Patients with NSHL.
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NIAID Data Ecosystem
2026-03-09 收录
遗传性耳聋基因分析
GJB2基因
数据链接:
https://figshare.com/articles/dataset/Unclassified_i_GJB2_i_variants_in_Patients_with_NSHL_/4128024
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资源简介:
Unclassified GJB2 variants in Patients with NSHL.
应用场景:
创建时间:
2016-10-29
相关数据集
Table S1 - Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity
儿科听力损失
GJB2基因
Statistics for targeted next generation sequencing from the two subjects with p.V37I variant. (DOCX)
NIAID Data Ecosystem
13
0
Homo sapiens Exome. Homo sapiens
外显子测序
遗传性耳聋基因分析
Deafness gene
NIAID Data Ecosystem
7
0
Variants in the GJB2 gene among 1067 Han Chinese subjects with hearing loss.
遗传性耳聋基因分析
基因变异保守性评估
a The conservation index (CI) was calculated by comparing the human amino acid variants with other 22 species (See S1 Table). The CI was then defined as the percentage of species from the list of 23 d
NIAID Data Ecosystem
5
0
Additional file 15: of Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes
遗传性耳聋基因分析
外显子组测序变异检测
Table S11. which contains further details of the validated variants listed in Table 3. (XLS 32 kb)
Figshare
2018-09-05 更新
8
0
Molecular epidemiological information of ten SLC26A4 variants in 2352 unrelated NSHL patients.
遗传性耳聋基因分析
分子流行病学
Molecular epidemiological information of ten SLC26A4 variants in 2352 unrelated NSHL patients.
Figshare
2015-12-02 更新
6
0
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