Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS2
Variant:p.R32Splc
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NDUFS2

NM_001377299.1:p.R32Splc

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.

Iommarini L et al.

The International Journal of Biochemistry & Cell Biology, 2013

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

Calvo SE et al.

Nature Genetics, 2010

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