Varaico: Literature-Extracted Genetic Variants

Gene:MRPL3
Variant:p.P317R
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MRPL3

NM_007208.4:p.P317R

Associated Papers

Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?

Singh N et al.

Journal of Cardiovascular Development and Disease, 2023

37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData

Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.

Yang J et al.

Cells, 2022

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.

Mazzaccara C et al.

International Journal of Molecular Sciences, 2021

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.

Jackson CB et al.

Human Molecular Genetics, 2019

COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial Nephritis.

Bursle C et al.

Jimd Reports, 2017

Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease.

Cao X et al.

Free Radical Biology & Medicine, 2016

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Menezes MJ et al.

Human Molecular Genetics, 2015

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Galmiche L et al.

Human Mutation, 2011

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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."