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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACO2

Variant:p.Q702delFs

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ACO2

NM_001098.3:p.Q702delFs

hg38:chr22:41527918 CAG>C

Associated Papers

Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis.

Lail N et al.

Neurology, 2023

37460232 (PubMed )

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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."