Varaico: Literature-Extracted Genetic Variants

Gene:ARV1
Variant:p.P174fs
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ARV1

NM_022786.3:p.P174fs

Associated Papers

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

Buhusayen FAM et al.

Cureus, 2025

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.

Salian S et al.

Clinical Genetics, 2021

Arv1; a "Mover and Shaker" of Subcellular Lipids.

Corbalan JJ et al.

Contact (thousand Oaks (ventura County, Calif.)), 0

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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."