Varaico: Literature-Extracted Genetic Variants

Gene:ARV1
Variant:p.L185_S186del1
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ARV1

NM_022786.3:p.L185_S186del1

Associated Papers

ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.

Lu T et al.

The Journal of Biological Chemistry, 2025

40378954 (PubMed )
Supplement: mmc1.pdf

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

Buhusayen FAM et al.

Cureus, 2025

ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.

Kamate M et al.

Cerebellum (london, England), 2024

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.

Karabinos A et al.

Journal of Medical Case Reports, 2022

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."