Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.V198A
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IVNS1ABP

NM_006469.5:p.V198A

Associated Papers

Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis.

Yasheng M et al.

The Journal of Biological Chemistry, 2025

Deafness-associated tRNAPhe mutation impaired mitochondrial and cellular integrity.

Chen X et al.

The Journal of Biological Chemistry, 2024

Leber's Hereditary Optic Neuropathy: the roles of mitochondrial transfer RNA variants.

Ding Y et al.

Peerj, 2021

Mutational hotspots in the mitochondrial D-loop region of cancerous and precancerous colorectal lesions in Egyptian patients.

Kassem AM et al.

Dna and Cell Biology, 2011

Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

Zhang AM et al.

Plos One, 2011

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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."