Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.D546N
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HCN4

NM_005477.3:p.D546N

Associated Papers

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Functional reclassification of variants of uncertain significance in the HCN4 gene identified in sudden unexpected death.

Dong J et al.

Pacing and Clinical Electrophysiology : Pace, 2019

Functional characterization of TRPM4 variants identified in sudden unexpected natural death.

Subbotina E et al.

Forensic Science International, 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."