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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.L253delFs

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ABCA4

NM_000350.3:p.L253delFs

hg38:chr1:94098802 AG>A

Associated Papers

RDH12 retinopathy: clinical features, biology, genetics and future directions.

Daich Varela M et al.

Ophthalmic Genetics, 2022

35491887 (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."