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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
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Statistics for targeted next generation sequencing from the two subjects with p.V37I variant. (DOCX)
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Variants detected by targeted next generation sequencing of 82 deafness genes from two subjects (SH42-94, SB51-95) carrying p.V37I variant of GJB2.
遗传性耳聋基因检测
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Variants detected by targeted next generation sequencing of 82 deafness genes from two subjects (SH42-94, SB51-95) carrying p.V37I variant of GJB2.
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Etiology of early hearing loss in Brazilian children
儿科听力损失
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Abstract Introduction Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to
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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
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