Varaico: Literature-Extracted Genetic Variants

Gene:KLHL24
Variant:p.M1R
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KLHL24

NM_017644.3:p.M1R

Associated Papers

KLHL24 mutation drives intermediate filament degradation, mitochondrial dysfunction and fibrosis in heart failure patients.

Ramovs V et al.

Cardiovascular Research, 2025

KLHL24 associated cardiomyopathy: Gene function to clinical management.

Johnson N et al.

Gene, 2025

Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24.

Ramovs V et al.

Stem Cell Research, 2021

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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."