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: V535M

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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Unusual Cause of Bidirectional Ventricular Rhythm.

Jacc. Case Reports

Chakraborty, Praloy P; Isser, Hermohander Singh HS; Arava, Sudheer S; Bhatia, Mona M; Mandal, Kausik K; Jahangir, Arshad A

Publication Date: 2019-06

Variant appearance in text: KCNH2: Val535Met

PubMed Link: 34316734

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs375872367

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: KCNH2: 1603G>A; Val535Met

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Pore size matters for potassium channel conductance.

The Journal Of General Physiology

Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I

Publication Date: 2016-10

Variant appearance in text: KCNH2: V535M

PubMed Link: 27619418

Variant Present in the following documents:

• JGP_201611625.pdf

View BVdb publication page

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Polycomb repressive complex 1 controls uterine decidualization.

Scientific Reports

Bian, Fenghua F; Gao, Fei F; Kartashov, Andrey V AV; Jegga, Anil G AG; Barski, Artem A; Das, Sanjoy K SK

Publication Date: 2016-05-16

Variant appearance in text: KCNH2: V535M

PubMed Link: 27181215

Variant Present in the following documents:

• srep26061-s1.pdf

View BVdb publication page

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Hydrophobic interactions between the voltage sensor and pore mediate inactivation in Kv11.1 channels.

The Journal Of General Physiology

Perry, Matthew D MD; Wong, Sophia S; Ng, Chai Ann CA; Vandenberg, Jamie I JI

Publication Date: 2013-09

Variant appearance in text: Kv11.1: V535M

PubMed Link: 23980196

Variant Present in the following documents:

• supp_jgp.201310975_JGP_201310975_sm.pdf

View BVdb publication page

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