Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF1
Variant:p.H93R
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NDUFAF1

NM_016013.4:p.H93R

Associated Papers

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Kalantari S et al.

American Journal of Medical Genetics. Part A, 2025

Krabbe Disease Associated With Mitochondrial Dysfunction in a Chinese Family.

Wu L et al.

Frontiers in Neurology, 2021

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

Mukherjee S et al.

Mitochondrion, 2020

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.

Wang X et al.

Scientific Reports, 2016

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene.

Wu L et al.

Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016

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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."