Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs10832417

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs10832417

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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SNPs in lncRNA KCNQ1OT1 Modulate Its Expression and Confer Susceptibility to Salt Sensitivity of Blood Pressure in a Chinese Han Population.

Nutrients

Xie, Yunyi Y; Qi, Han H; Peng, Wenjuan W; Li, Bingxiao B; Wen, Fuyuan F; Zhang, Fengxu F; Zhang, Ling L

Publication Date: 2022-09-26

Variant appearance in text: rs10832417

PubMed Link: 36235643

Variant Present in the following documents:

• Main text
• nutrients-14-03990.pdf

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs10832417

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: KCNQ1: 1394-30534T>G; rs10832417

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.

Circulation. Cardiovascular Genetics

He, Jiang J; Kelly, Tanika N TN; Zhao, Qi Q; Li, Hongfan H; Huang, Jianfeng J; Wang, Laiyuan L; Jaquish, Cashell E CE; Sung, Yun Ju YJ; Shimmin, Lawrence C LC; Lu, Fanghong F; Mu, Jianjun J; Hu, Dongsheng D; Ji, Xu X; Shen, Chong C; Guo, Dongshuang D; Ma, Jixiang J; Wang, Renping R; Shen, Jinjin J; Li, Shengxu S; Chen, Jing J; Mei, Hao H; Chen, Chung-Shiuan CS; Chen, Shufeng S; Chen, Jichun J; Li, Jianxin J; Cao, Jie J; Lu, Xiangfeng X; Wu, Xigui X; Rice, Treva K TK; Gu, C Charles CC; Schwander, Karen K; Hamm, L Lee LL; Liu, Depei D; Rao, Dabeeru C DC; Hixson, James E JE; Gu, Dongfeng D

Publication Date: 2013-12

Variant appearance in text: rs10832417

PubMed Link: 24165912

Variant Present in the following documents:

• Main text

View BVdb publication page

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