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: W568R; rs199472927

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNH2: W568R

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

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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: W568R

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: KCNH2: W568R

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 3

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