Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.M377L
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COX15

NM_078470.6:p.M377L

Associated Papers

Leigh Syndrome Due to the Variant c.1019T>C in COX15.

Finsterer J

Movement Disorders Clinical Practice, 2025

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Lin D et al.

Bmc Medical Genomics, 2023

36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM5_ESM.xlsx › Sheet1

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

Yang J et al.

Cells, 2022

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Cao Y et al.

Genome Medicine, 2019

31349857 (PubMed )
Supplement: 13073_2019_658_MOESM4_ESM.xlsx › data_cao_ye_mosaic_HPO
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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."