Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.N1206fs
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ABCA4

NM_000350.3:p.N1206fs

Associated Papers

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

Esteve-Garcia A et al.

Eye (london, England), 2025

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

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."