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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARV1

Variant:p.F144fs

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ARV1

NM_022786.3:p.F144fs

hg38:chr1:230990245 TTT>N

Associated Papers

When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy.

Hammad Seroor Jadah R et al.

Cureus, 2025

40376369 (PubMed )

Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy.

Buhusayen FAM et al.

Cureus, 2025

40416165 (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."