Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.R75H
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NDUFA9

NM_005002.5:p.R75H

Associated Papers

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

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

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Oluwole OG et al.

Bmc Medical Genetics, 2020

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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."