Varaico: Literature-Extracted Genetic Variants

Gene:GPD1L
Variant:p.R189*
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GPD1L

NM_015141.4:p.R189*

Associated Papers

GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.

Semino F et al.

Pflugers Archiv : European Journal of Physiology, 2024

The role of GPD1L, a sodium channel interacting gene, in the pathogenesis of Brugada Syndrome.

Greiner AM et al.

Frontiers in Medicine, 2023

Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.

Yuan M et al.

Frontiers in Cardiovascular Medicine, 2021

Whole-exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death.

Huang H et al.

Journal of Cellular and Molecular Medicine, 2018

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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."