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: rs199473428

PubMed Link: 37324772

Variant Present in the following documents:

• JOA3-39-430.pdf

View BVdb publication page

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.

Scientific Reports

Kerr, Shona M SM; Klaric, Lucija L; Halachev, Mihail M; Hayward, Caroline C; Boutin, Thibaud S TS; Meynert, Alison M AM; Semple, Colin A CA; Tuiskula, Annukka M AM; Swan, Heikki H; Santoyo-Lopez, Javier J; Vitart, Veronique V; Haley, Chris C; Dean, John J; Miedzybrodzka, Zosia Z; Aitman, Timothy J TJ; Wilson, James F JF

Publication Date: 2019-07-29

Variant appearance in text: rs199473428

PubMed Link: 31358886

Variant Present in the following documents:

• Main text

View BVdb publication page