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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.H964fs

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ABCA4

NM_000350.3:p.H964fs

hg38:chr1:94046947 GTG>N

Associated Papers

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Runhart EH et al.

Jama Ophthalmology, 2020

32815999 (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."