Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.S701N
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NDUFS1

NM_005006.7:p.S701N

Associated Papers

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Schlüter A et al.

Neurology, 2022

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Lim AZ et al.

Annals of Neurology, 2022

Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Björkman K et al.

Mitochondrion, 2015

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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."