Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.C75Y
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TRIM63

NM_032588.4:p.C75Y

Associated Papers

Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.

Bonanni F et al.

International Journal of Cardiology, 2026

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S7._Non-pass_IEVs

HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure.

Chunthorng-Orn J et al.

International Journal of Molecular Sciences, 2025

Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy.

Ruhrman Shahar N et al.

Circulation. Genomic and Precision Medicine, 2025

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Jaouadi H et al.

Frontiers in Medicine, 2024

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Chumakova OS et al.

Genes, 2023

38002985 (PubMed )
Supplement: genes-14-02042-s001.zip › genes-2645868-supplementary.pdf

[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].

Pisklova MV et al.

Terapevticheskii Arkhiv, 2023

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

Lipov A et al.

Nature Cardiovascular Research, 2023

Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant.

Andreeva S et al.

Frontiers in Genetics, 2022

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Salazar-Mendiguchía J et al.

Heart (british Cardiac Society), 2020

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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."