Varaico: Literature-Extracted Genetic Variants

Gene:ARV1
Variant:p.K173insFs
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ARV1

NM_022786.3:p.K173insFs

Associated Papers

Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Torbati PN et al.

Pediatric Neurology, 2026

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

Kamate M et al.

Cerebellum (london, England), 2024

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

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E et al.

Plos One, 2015

26670335 (PubMed )
Supplement: pone.0144528.s005.xlsx › TableS3

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."