Associated Papers
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
Kamate M et al.
Cerebellum (london, England), 2024
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.
Karabinos A et al.
Journal of Medical Case Reports, 2022
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
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Segel R et al.
Neurogenetics, 2020
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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