Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.R306H
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NEXN

NM_144573.4:p.R306H

Associated Papers

Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy.

Antheia K et al.

Scientific Reports, 2025

41214182 (PubMed )
Supplement: 41598_2025_27238_MOESM1_ESM.pdf

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

30715372 (PubMed )
Supplement: ddz032_supp.zip › HMG-2018-D-01045_Hedberg-Oldfors_Supplemental_data.docx

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S7

Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy.

Frustaci A et al.

Circulation. Cardiovascular Imaging, 2016

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004

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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."