Varaico: Literature-Extracted Genetic Variants

Gene:RPL3L
Variant:p.R116H
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RPL3L

NM_005061.3:p.R116H

Associated Papers

Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy.

Zhang X et al.

American Journal of Medical Genetics. Part A, 2026

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Murphy MR et al.

Nature Cardiovascular Research, 2026

Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy.

Murphy MR et al.

Biorxiv : the Preprint Server for Biology, 2025

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_MOESM3_ESM.xlsx › S1

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

Al-Hassnan ZN et al.

Circulation. Genomic and Precision Medicine, 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."