Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.Q2019L
Back to variants list

ABCA4

NM_000350.3:p.Q2019L

Associated Papers

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Cobos E et al.

Investigative Ophthalmology & Visual Science, 2026

41642025 (PubMed )
Supplement: iovs-67-2-19_s001.xlsx › Table_S1

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.

Gregory-Evans K et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2024

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."