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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA1

Variant:p.C764Y

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ABCA1

NM_005502.4:p.C764Y

hg38:chr9:104826994 C>T

Associated Papers

Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

Garces FA et al.

International Journal of Molecular Sciences, 2020

33375396 (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."