Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A3
Variant:p.R370H
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SLC4A3

NM_201574.3:p.R370H

Associated Papers

A Novel Variant in SLC4A3 Gene Mutation Associated With Familial Short QT Syndrome and Sudden Death.

Crea P et al.

Journal of Cardiovascular Electrophysiology, 2025

Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland.

Neubauer J et al.

Forensic Science International, 2022

Mouse models of SLC4-linked disorders of HCO3--transporter dysfunction.

Parker MD

American Journal of Physiology. Cell Physiology, 2018

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.

Thorsen K et al.

Nature Communications, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."