Varaico: Literature-Extracted Genetic Variants

Gene:MRPL3
Variant:p.R17fs
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MRPL3

NM_007208.4:p.R17fs

Associated Papers

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

Yang J et al.

Cells, 2022

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

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

Bursle C et al.

Jimd Reports, 2017

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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."