Varaico: Literature-Extracted Genetic Variants

Gene:GPD1L
Variant:p.Q345H
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GPD1L

NM_015141.4:p.Q345H

Associated Papers

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS08_het

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

Greiner AM et al.

Frontiers in Medicine, 2023

1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Bajaj A et al.

Human Genomics, 2022

35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
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