Associated Papers
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
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R et al.
Genome Medicine, 2024
39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM3_ESM.xlsx › Table_S3
Exploring the Regulation and Function of Rpl3l in the Development of Early-Onset Dilated Cardiomyopathy and Congestive Heart Failure Using Systems Genetics Approach.
Bajpai AK et al.
Genes, 2023
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
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_MOESM1_ESM.pdf
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
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.
Thorolfsdottir RB et al.
Communications Biology, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518
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