Varaico: Literature-Extracted Genetic Variants

Gene:RPL3L
Variant:p.R343W
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RPL3L

NM_005061.3:p.R343W

Associated Papers

Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study.

Xu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

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

Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.

Flümann R et al.

Blood Cancer Discovery, 2023

36346827 (PubMed )
Supplement: bcd-22-0007_table_s6_suppst6.xlsx › F_Mut_Pat.__6

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

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Olkinuora AP et al.

Frontiers in Oncology, 2022

36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6

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

Ganapathi M et al.

Human Genetics, 2020

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S4
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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."