Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.R221*
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NDUFS2

NM_001377299.1:p.R221*

Associated Papers

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H et al.

European Journal of Human Genetics : Ejhg, 2011

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
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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."