Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF3
Variant:p.I114_V115ins1
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NDUFAF3

NM_199069.2:p.I114_V115ins1

Associated Papers

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

van der Ven AT et al.

Molecular Genetics and Metabolism, 2023

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

Mukherjee S et al.

Mitochondrion, 2020

NDUFAF3 variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy.

Ishiyama A et al.

Clinical Genetics, 2018

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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."