Varaico: Literature-Extracted Genetic Variants

Gene:GPD1L
Variant:p.R220H
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GPD1L

NM_015141.4:p.R220H

Associated Papers

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

The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.

Winkel BG et al.

Heart Rhythm, 2015

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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."