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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCA4

Variant:p.V691_S692insAG

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ABCA4

NM_000350.3:p.V691_S692insAG

hg38:chr1:94060626 C>CNNNNNN

Associated Papers

Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

Fuse N et al.

Journal of Glaucoma, 2004

15226658 (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."