Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.F1383fs
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ABCA4

NM_000350.3:p.F1383fs

Associated Papers

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Sao Su S et al.

Ophthalmic Genetics, 2025

Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.

Tan TE et al.

Diagnostics (basel, Switzerland), 2023

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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."