Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.V1973fs
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ABCA4

NM_000350.3:p.V1973fs

Associated Papers

Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.

Rao MK et al.

Clinical Genetics, 2025

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K et al.

Molecular Genetics & Genomic Medicine, 2022

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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."