Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.G29S
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IVNS1ABP

NM_006469.5:p.G29S

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

Mitochondrial DNA Variants at Low-Level Heteroplasmy and Decreased Copy Numbers in Chronic Kidney Disease (CKD) Tissues with Kidney Cancer.

Kanazashi Y et al.

International Journal of Molecular Sciences, 2023

38139039 (PubMed )
Supplement: ijms-24-17212-s001.zip › ijms-2635534-supplementary › Supplementary_Materials_Tables_S1-S7.xlsx › SNV

Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth.

Yang Z et al.

Human Mutation, 2021

34467602 (PubMed )
Supplement: HUMU-42-1602-s001.xlsx › Sheet1

Frequency and spectrum of MT-TT variants associated with Leber's hereditary optic neuropathy in a Chinese cohort of subjects.

Lyu Y et al.

Mitochondrial Dna. Part B, Resources, 2019

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

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

Ammar M et al.

Biochemical and Biophysical Research Communications, 2016

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."