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: 785delG

PubMed Link: 37324772

Variant Present in the following documents:

• Main text

View BVdb publication page

KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort.

Life (Basel, Switzerland)

Lorca, Rebeca R; Junco-Vicente, Alejandro A; Pérez-Pérez, Alicia A; Pascual, Isaac I; Persia-Paulino, Yvan Rafael YR; González-Urbistondo, Francisco F; Cuesta-Llavona, Elías E; Fernández-Barrio, Bárbara C BC; Morís, César C; Rubín, José Manuel JM; Coto, Eliecer E; Gómez, Juan J; Reguero, José Julián Rodríguez JJR

Publication Date: 2022-04-08

Variant appearance in text: KCNH2: 785delG

PubMed Link: 35455047

Variant Present in the following documents:

• Main text
• life-12-00556.pdf

View BVdb publication page