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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACO1

Variant:p.S444del1

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ACO1

NM_002197.3:p.S444del1

hg38:chr9:32425978 GTCT>G

Associated Papers

Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures.

Maio N et al.

Brain Communications, 2022

35602653 (PubMed )

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