Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.E215G
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IVNS1ABP

NM_006469.5:p.E215G

Associated Papers

Mitochondrial tRNA variants in 811 Chinese probands with Leber's hereditary optic neuropathy.

Ji Y et al.

Mitochondrion, 2022

Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Jiang P et al.

Human Molecular Genetics, 2016

Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.

Guaran V et al.

International Journal of Molecular Medicine, 2013

Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

Yu D et al.

Plos One, 2010

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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."