Varaico: Literature-Extracted Genetic Variants

Gene:KLHL24
Variant:p.E350*
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KLHL24

NM_017644.3:p.E350*

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

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

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

Yenamandra VK et al.

The British Journal of Dermatology, 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."