Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV3
Variant:p.K56N
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NDUFV3

NM_021075.4:p.K56N

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS24_hom

Germline mutations in mitochondrial complex I reveal genetic and targetable vulnerability in IDH1-mutant acute myeloid leukaemia.

Bassal MA et al.

Nature Communications, 2022

35551192 (PubMed )
Supplement: 41467_2022_30223_MOESM4_ESM.xlsx › MAF0.005_VariantsWES

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

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."