Varaico: Literature-Extracted Genetic Variants

Gene:ACO2
Variant:p.G683D
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ACO2

NM_001098.3:p.G683D

Associated Papers

ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

Guehlouz K et al.

Scientific Data, 2021

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

Charif M et al.

Brain Communications, 2021

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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."