Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS3
Variant:p.R140W
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NDUFS3

NM_004551.3:p.R140W

Associated Papers

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Epifane-de-Assunção MC et al.

Molecular Neurobiology, 2025

Characterization of the genomic alterations in poorly differentiated thyroid cancer.

Lee Y et al.

Scientific Reports, 2023

37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P13

Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.

Dar GM et al.

Ageing Research Reviews, 2023

Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.

Peralta S et al.

Jci Insight, 2020

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

Mukherjee S et al.

Mitochondrion, 2020

Myopathy reversion in mice after restauration of mitochondrial complex I.

Pereira CV et al.

Embo Molecular Medicine, 2020

Molecular basis of Leigh syndrome: a current look.

Schubert Baldo M et al.

Orphanet Journal of Rare Diseases, 2020

A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

Lou X et al.

Journal of Human Genetics, 2018

Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

Lou X et al.

Journal of Human Genetics, 2018

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.

Johnstone T et al.

Molecular Genetics and Metabolism, 0

Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.

Samanta D et al.

Journal of Pediatric Neurosciences, 0

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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."