Publications:

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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: 1259A>G; rs199473507

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Molecular dynamics simulations suggest possible activation and deactivation pathways in the hERG channel.

Communications Biology

Costa, Flavio F; Guardiani, Carlo C; Giacomello, Alberto A

Publication Date: 2022-02-24

Variant appearance in text: HERG: Y420C

PubMed Link: 35210539

Variant Present in the following documents:

• 42003_2022_3074_MOESM1_ESM.pdf
• 42003_2022_Article_3074.pdf

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: Y420C

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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A helical segment makes potassium channels go-go.

The Journal Of Biological Chemistry

Parent, Lucie L

Publication Date: 2017-05-05

Variant appearance in text: Kv11.1: Y420C

PubMed Link: 28476926

Variant Present in the following documents:

• Main text

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The S1 helix critically regulates the finely tuned gating of Kv11.1 channels.

The Journal Of Biological Chemistry

Phan, Kevin K; Ng, Chai Ann CA; David, Erikka E; Shishmarev, Dmitry D; Kuchel, Philip W PW; Vandenberg, Jamie I JI; Perry, Matthew D MD

Publication Date: 2017-05-05

Variant appearance in text: Kv11.1: Y420C

PubMed Link: 28280240

Variant Present in the following documents:

• Main text

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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: LQT2: Y420C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: KCNH2: Y420C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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