Publications:

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Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

Orphanet Journal Of Rare Diseases

Lu, Fengying F; Xue, Peng P; Zhang, Bin B; Wang, Jing J; Yu, Bin B; Liu, Jianbin J

Publication Date: 2022-01-04

Variant appearance in text: SCN5A: R222W

PubMed Link: 34983622

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study.

Orphanet Journal Of Rare Diseases

Lu, Fengying F; Xue, Peng P; Zhang, Bin B; Wang, Jing J; Yu, Bin B; Liu, Jianbin J

Publication Date: 2022-01-04

Variant appearance in text: SCN5A: R222W

PubMed Link: 34983622

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in murine myocytes and Purkinje cells.

Heart Rhythm

Daniel, Laura L LL; Yang, Tao T; Kroncke, Brett B; Hall, Lynn L; Stroud, Dina D; Roden, Dan M DM

Publication Date: 2019-11

Variant appearance in text: SCN5A: R222W

PubMed Link: 31125670

Variant Present in the following documents:

• Main text

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: R222W

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: R222W

PubMed Link: 26834636

Variant Present in the following documents:

• Main text
• fphar-06-00314.pdf

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Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.

The Journal Of General Physiology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Delemotte, Lucie L; Klein, Michael L ML; Chahine, Mohamed M

Publication Date: 2015-02

Variant appearance in text: SCN5A: R222W

PubMed Link: 25624448

Variant Present in the following documents:

• Main text

View BVdb publication page

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