Associated Papers
Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.
Smirnov V et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Case Report: Multiple peripheral nerve demyelinating lesions and cerebrovascular injury which resulted in extensive cerebral infarction in a XLP1 patient without EBV infection.
Li J et al.
Frontiers in Immunology, 2025
40519929 (PubMed )
Supplement: Table2.xlsx › info_analysis
Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.
Hessenberger M et al.
Handbook of Experimental Pharmacology, 2023
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient.
Cheng J et al.
3 Biotech, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.
Ba-Abbad R et al.
Ophthalmology, 2016
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