Varaico: Literature-Extracted Genetic Variants

Gene:OPA3
Variant:p.Q115*
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OPA3

NM_025136.4:p.Q115*

Associated Papers

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

Caivio-Nasner S et al.

Tropical Animal Health and Production, 2021

Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.

Horiuchi N et al.

The Journal of Veterinary Medical Science, 2015

Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.

Jansen S et al.

Bmc Genomics, 2013

23826801 (PubMed )
Supplement: 1471-2164-14-446-S6.xls › Sheet1

A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle.

Owczarek-Lipska M et al.

Genomics, 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."