Varaico: Literature-Extracted Genetic Variants

Gene:KLHL24
Variant:p.R306H
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KLHL24

NM_017644.3:p.R306H

Associated Papers

KLHL24 associated cardiomyopathy: Gene function to clinical management.

Johnson N et al.

Gene, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Clinical Outcome in KLHL24 Cardiomyopathy.

Vermeer MCSC et al.

Circulation. Genomic and Precision Medicine, 2023

Genetic Insights from Consanguineous Cardiomyopathy Families.

Maurer C et al.

Genes, 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Walsh R et al.

Nature Reviews. Cardiology, 2022

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Hedberg-Oldfors C et al.

Human Molecular Genetics, 2019

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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."