Varaico: Literature-Extracted Genetic Variants

Gene:C1QBP
Variant:p.T40fs
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C1QBP

NM_001212.4:p.T40fs

Associated Papers

Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.

Moudian I et al.

Dna and Cell Biology, 2025

Complement C1q Binding Protein (C1QBP): Physiological Functions, Mutation-Associated Mitochondrial Cardiomyopathy and Current Disease Models.

Wang J et al.

Frontiers in Cardiovascular Medicine, 2022

Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.

Webster G et al.

American Journal of Medical Genetics. Part A, 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."