Chinese Patients with Bi-allelic Pathogenic variants in <i>GJB2</i>.

NIAID Data Ecosystem2026-03-09 收录

数据链接：

https://figshare.com/articles/dataset/Chinese_Patients_with_Bi-allelic_Pathogenic_variants_in_i_GJB2_i_/4127928 数据链接链接失效反馈

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资源简介：

Chinese Patients with Bi-allelic Pathogenic variants in GJB2.

创建时间：

2016-10-29

Next Generation Sequencing Facilitates Quantitative Analysis of Wild Type and Pou4f3(Δ/+) Cochlear Transcriptomes. Next Generation Sequencing Facilitates Quantitative Analysis of Wild Type and Pou4f3(Δ/+) Cochlear Transcriptomes

耳蜗转录组学

遗传性耳聋

We report application of RNA-seq for transcriptomic analyses of cochlear tissues from wildtype and DFNA15 deafness mouse model Pou4f3(Δ/+) to reveal gene expressions altered by Pou4f3 mutation Overall

NIAID Data Ecosystem70

Summary of clinical and molecular data for 4 Han Chinese subjects carrying the putative deafness-associated mutations in GJB2 gene.

遗传性耳聋

GJB2基因突变

a F female, M male. b PTA pure-tone audiometry. c dB decibel. d The (putative) pathogenic mutations were in bold. Summary of clinical and molecular data for 4 Han Chinese subjects carrying the putativ

NIAID Data Ecosystem50

Mutational spectrum of subjects with DFNB9 in our cohort.

遗传性耳聋

基因突变

Mutational spectrum of subjects with DFNB9 in our cohort.

NIAID Data Ecosystem40

A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population

遗传性耳聋

反向斑点杂交技术

BackgroundCongenital deafness is one of the most distressing disorders affecting humanity and exhibits a high incidence worldwide. Most cases of congenital deafness in the Chinese population are cause

Figshare2017-05-16 更新50

The extremely rare nonsense mutation in the MARVELD2 gene results in deafness

遗传性耳聋

基因突变分析

A Chinese family from Hainan Province experienced non-syndromic hearing loss (NSHL). Peripheral venous blood samples were collected from 18 members of this family, and DNA was extracted for whole-exom

NIAID Data Ecosystem50

Chinese Patients with Bi-allelic Pathogenic variants in <i>GJB2</i>.

资源简介：

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