Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV3
Variant:p.R200*
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NDUFV3

NM_021075.4:p.R200*

Associated Papers

Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.

Xiao R et al.

Iscience, 2024

38414864 (PubMed )
Supplement: mmc1.pdf

rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.

Clark JSC et al.

Scientific Reports, 2023

37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R et al.

Nature, 2023

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

A novel isoform of the human mitochondrial complex I subunit NDUFV3.

Dibley MG et al.

Febs Letters, 2017

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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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."