Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.K480E
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IVNS1ABP

NM_006469.5:p.K480E

Associated Papers

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

Bibi S et al.

Frontiers in Endocrinology, 2023

Mitochondrial DNA variant spectrum and the association with chronic tic disorders.

Jiang P et al.

European Journal of Neurology, 2022

Next-generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus.

Alwehaidah MS et al.

Biomedical Reports, 2021

Differential mitochondrial genome in patients with Rheumatoid Arthritis.

Jaiswal KS et al.

Autoimmunity, 2021

Sperm parameters and mitochondrial DNA sequence variants among patients at a fertility clinic in Ghana.

Dzudzor B et al.

Plos One, 2021

Evaluating heteroplasmic variations of the mitochondrial genome from whole genome sequencing data.

Duan M et al.

Gene, 2019

Systematic analysis of the clinical and biochemical characteristics of maternally inherited hypertension in Chinese Han families associated with mitochondrial.

Liu Y et al.

Bmc Medical Genomics, 2014

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

Martínez-Romero Í et al.

Clinical & Experimental Ophthalmology, 2014

Parkinson's disease and mitochondrial gene variations: a review.

Andalib S et al.

Journal of the Neurological Sciences, 2014

Mitochondrial diabetes in children: seek and you will find it.

Mazzaccara C et al.

Plos One, 2012

22536343 (PubMed )
Supplement: pone.0034956.s006.pdf

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

The heteroplasmic m.14709T>C mutation in the tRNA(Glu) gene in two Tunisian families with mitochondrial diabetes.

Mezghani N et al.

Journal of Diabetes and Its Complications, 0

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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."