Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.L44F
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IVNS1ABP

NM_006469.5:p.L44F

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 Pathogenic Variants in Ophthalmic Diseases: A Review.

Abu-Amero KK et al.

Genes, 2025

A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations.

Klink GV et al.

Scientific Reports, 2021

Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.

Martín-Navarro A et al.

Bmc Bioinformatics, 2017

Disease-associated mitochondrial mutations and the evolution of primate mitogenomes.

Tavares WC et al.

Plos One, 2017

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

Achilli A et al.

Plos One, 2012

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy.

Valentino ML et al.

Annals of Neurology, 2004

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