Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N1206delFs
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ABCA4

NM_000350.3:p.N1206delFs

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_s002.xlsx › Variants-Dominis

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1

CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.

Heath Jeffery RC et al.

Retina (philadelphia, Pa.), 2021

Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.

Fars J et al.

Investigative Ophthalmology & Visual Science, 2021

Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.

Heath Jeffery RC et al.

Ophthalmology Science, 2021

36246008 (PubMed )
Supplement: mmc2.pdf

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.

Mena MD et al.

Frontiers in Genetics, 2021

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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."