Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.R483_V487del0
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HCN4

NM_005477.3:p.R483_V487del0

Associated Papers

Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.

Ponińska JK et al.

Journal of Translational Medicine, 2022

35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf
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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."