Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.I15T
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IVNS1ABP

NM_006469.5:p.I15T

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

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

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.

Ji Y et al.

Investigative Ophthalmology & Visual Science, 2016

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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."