Publications:

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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: KCNQ1: E261D

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM9_ESM.xlsx, sheet 3

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Phosphatidylinositol-4,5-bisphosphate is required for KCNQ1/KCNE1 channel function but not anterograde trafficking.

Plos One

Royal, Alice A AA; Tinker, Andrew A; Harmer, Stephen C SC

Publication Date: 2017

Variant appearance in text: KCNQ1: Glu261Asp

PubMed Link: 29020060

Variant Present in the following documents:

• Main text
• pone.0186293.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: E261D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: E261D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

Journal Of Cardiovascular Disease Research

Gao, Yuanfeng Y; Li, Cuilan C; Liu, Wenling W; Wu, Robby R; Qiu, Xiaoliang X; Liang, Ruijuan R; Li, Lei L; Zhang, Li L; Hu, Dayi D

Publication Date: 2012-04

Variant appearance in text: KCNQ1: E261D

PubMed Link: 22629021

Variant Present in the following documents:

• JCDR-3-67.pdf

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT1: E261D

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Structural models for the KCNQ1 voltage-gated potassium channel.

Biochemistry

Smith, Jarrod A JA; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2007-12-11

Variant appearance in text: KCNQ1: Glu261Asp

PubMed Link: 17999538

Variant Present in the following documents:

• Main text

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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: KCNQ1: E261D

PubMed Link: 12442276

Variant Present in the following documents:

• Main text

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