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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.G1771Splc

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ABCA4

NM_000350.3:p.G1771Splc

hg38:chr1:94014700 A>C

Associated Papers

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Barberán-Martínez P et al.

The Journal of Molecular Diagnostics : Jmd, 2026

41500401 (PubMed )

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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."