Publications:

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 1332G>T; rs9770044

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine

Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G

Publication Date: 2020-04

Variant appearance in text: KCNH2: E444D

PubMed Link: 32311972

Variant Present in the following documents:

• medi-99-e19749.pdf

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KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

Human Mutation

Liu, Wenling W; Yang, Junguo J; Hu, Dayi D; Kang, Cailian C; Li, Cuilan C; Zhang, Shuoyan S; Li, Ping P; Chen, Zhijian Z; Qin, Xuguang X; Ying, Kang K; Li, Yuntian Y; Li, Yushu Y; Li, Zhiming Z; Cheng, Xin X; Li, Lei L; Qi, Yu Y; Chen, Shenghan S; Wang, Qing Q

Publication Date: 2002-12

Variant appearance in text: KCNH2: E444D

PubMed Link: 12442276

Variant Present in the following documents:

• Main text

View BVdb publication page