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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFG2A

Variant:p.S327_S328del2

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AFG2A

NM_145207.3:p.S327_S328del2

hg38:chr4:122934569 TTCTTCA>T

Associated Papers

AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

Nou-Fontanet L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

40712368 (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."