Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.N23K
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IVNS1ABP

NM_006469.5:p.N23K

Associated Papers

Analysis of Selective Pressure on Ancient Human Mitochondrial Genomes Reveals the Presence of Widespread Sequencing Artefacts.

Fernandes P et al.

International Journal of Molecular Sciences, 2025

40869060 (PubMed )
Supplement: ijms-26-07739-s001.zip › ijms-3768908-supplementary.pdf

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.

Iannielli A et al.

Cell Reports, 2018

29466734 (PubMed )
Supplement: mmc1.pdf

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L et al.

Plos Genetics, 2018

29444077 (PubMed )
Supplement: pgen.1007210.s006.docx

Site-specific selection reveals selective constraints and functionality of tumor somatic mtDNA mutations.

Li D et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2017

29179728 (PubMed )
Supplement: 13046_2017_638_MOESM3_ESM.xlsx › Supplementary_table_5_Phylotree

Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease.

Levin L et al.

Genome Biology and Evolution, 2013

23563965 (PubMed )
Supplement: supp_evt058_9868_dataset_Analysis.zip › 9868_dataset_Analysis › Analysis › result.xls.xlsx › ALL__Amino_Chainge

Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.

Roshan M et al.

Molecular Vision, 2012

Splicing of the mycobacteriophage Bethlehem DnaB intein: identification of a new mechanistic class of inteins that contain an obligate block F nucleophile.

Tori K et al.

The Journal of Biological Chemistry, 2010

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