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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF8

Variant:p.L2298fs

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PRPF8

NM_006445.4:p.L2298fs

hg38:chr17:1650918 CAG>N

Associated Papers

Variants in the PRPF8 Gene are Associated with Glaucoma.

Micheal S et al.

Molecular Neurobiology, 2018

28707069 (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."