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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.R226del1

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ABCA4

NM_000350.3:p.R226del1

hg38:chr1:94098883 AGCG>A

Associated Papers

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Bertelsen M et al.

Investigative Ophthalmology & Visual Science, 2014

24713488 (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."