Varaico: Literature-Extracted Genetic Variants

Gene:ARV1
Variant:p.V225Splc
Back to variants list

ARV1

NM_022786.3:p.V225Splc

Associated Papers

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

Comprehensive prenatal diagnostics: Exome versus genome sequencing.

Miceikaite I et al.

Prenatal Diagnosis, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."