Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.S289Splc
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NDUFS2

NM_001377299.1:p.S289Splc

Associated Papers

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

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

Calvo SE et al.

Nature Genetics, 2010

20818383 (PubMed )
Supplement: NIHMS228290-supplement-2.xls › per_sample

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.

Tuppen HA et al.

Brain : a Journal of Neurology, 2010

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