Varaico: Literature-Extracted Genetic Variants

Gene:RPL3L
Variant:p.D308N
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RPL3L

NM_005061.3:p.D308N

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

Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.

Yang Q et al.

Bmc Medical Genomics, 2023

Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review.

Das BB et al.

Children (basel, Switzerland), 2022

Further Evidence of Autosomal Recessive Inheritance of RPL3L Pathogenic Variants with Rapidly Progressive Neonatal Dilated Cardiomyopathy.

Nannapaneni H et al.

Journal of Cardiovascular Development and Disease, 2022

Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.

Ganapathi M et al.

Human Genetics, 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."