Varaico: Literature-Extracted Genetic Variants

Gene:NDUFC2
Variant:p.L46V
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NDUFC2

NM_004549.6:p.L46V

Associated Papers

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Alahmad A et al.

Embo Molecular Medicine, 2020

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.

Gershoni M et al.

Genome Biology and Evolution, 2014

Mitogroup: continent-specific clusters of mitochondrial OXPHOS complexes based on nuclear non-synonymous polymorphisms.

Pierron D et al.

Mitochondrion, 2012

A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.

Harris SE et al.

Bmc Genetics, 2007

17601350 (PubMed )
Supplement: 1471-2156-8-43-S1.doc

Rarity of Somatic Mutation and Frequency of Normal Sequence Variation Detected in Sporadic Colon Adenocarcinoma Using High-Throughput cDNA Sequencing.

Kan T et al.

Bioinformatics and Biology Insights, 2007

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