Varaico: Literature-Extracted Genetic Variants

Gene:RPL3L
Variant:p.A75V
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RPL3L

NM_005061.3:p.A75V

Associated Papers

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

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.

Hocking JC et al.

Plos Genetics, 2018

29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA2_Deleterious_Hits

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation.

Thorolfsdottir RB et al.

Communications Biology, 2018

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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."