Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS4
Variant:p.K131insFs
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NDUFS4

NM_002495.4:p.K131insFs

Associated Papers

Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.

Kahlhöfer F et al.

Life (basel, Switzerland), 2021

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

Mukherjee S et al.

Mitochondrion, 2020

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Lamont RE et al.

American Journal of Medical Genetics. Part A, 2017

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Triggs-Raine B et al.

Molecular Genetics & Genomic Medicine, 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."