Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.V487M
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HCN4

NM_005477.3:p.V487M

Associated Papers

Diverse monogenic subforms of human spermatogenic failure.

Nagirnaja L et al.

Nature Communications, 2022

36572685 (PubMed )
Supplement: 41467_2022_35661_MOESM3_ESM.xlsx › Supplementary_Data_1

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

A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.

Schweizer PA et al.

Journal of the American College of Cardiology, 2017

Reply: A Distinct Cardiomyopathy: HCN4 Syndrome Comprising Myocardial Noncompaction, Bradycardia, Mitral Valve Defects, and Aortic Dilation.

Arbustini E et al.

Journal of the American College of Cardiology, 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."