Varaico: Literature-Extracted Genetic Variants

Gene:TRIM63
Variant:p.S161fs
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TRIM63

NM_032588.4:p.S161fs

Associated Papers

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

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

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

Salazar-Mendiguchía J et al.

Heart (british Cardiac Society), 2020

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Ploski R et al.

Circulation Research, 2014

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