Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.N88S
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IVNS1ABP

NM_006469.5:p.N88S

Associated Papers

Mitogenomic Alterations in Breast Cancer: Identification of Potential Biomarkers of Risk and Prognosis.

Pérez-Amado CJ et al.

International Journal of Molecular Sciences, 2025

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

The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis.

Donato L et al.

Heliyon, 2024

The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome.

Bibi S et al.

Frontiers in Endocrinology, 2023

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis.

Al-Kafaji G et al.

Plos One, 2022

Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer.

Koshikawa N et al.

Scientific Reports, 2017

29138417 (PubMed )
Supplement: 41598_2017_15592_MOESM1_ESM.pdf

Mitochondrial Copy Number and D-Loop Variants in Pompe Patients.

Bahreini F et al.

Cell Journal, 2016

New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy.

Martínez-Romero Í et al.

Clinical & Experimental Ophthalmology, 2014

Mitochondrial DNA variants and risk of familial breast cancer: an exploratory study.

Tommasi S et al.

International Journal of Oncology, 2014

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.

Caporali L et al.

Biochimica Et Biophysica Acta, 2013

Mitochondrial DNA polymorphisms are associated with the longevity in the Guangxi Bama population of China.

Yang X et al.

Molecular Biology Reports, 2012

Complete mitochondrial DNA sequence analysis in two southern Chinese pedigrees with Leber hereditary optic neuropathy revealed secondary mutations along with the primary mutation.

Shu L et al.

International Journal of Ophthalmology, 2012

MtDNA mutation associated with mitochondrial dysfunction in megakaryoblastic leukaemic cells.

Piccoli C et al.

Leukemia, 2008

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

Horváth R et al.

Neuromuscular Disorders : Nmd, 2008

A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness.

Chen FL et al.

Mutation Research, 2006

Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction.

Howell N et al.

American Journal of Human Genetics, 2000

Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.

Macmillan C et al.

American Journal of Human Genetics, 2000

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.

Fabrizi GM et al.

Journal of Neurology, 1995

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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."