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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VWA5B2

Variant:p.T121K

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VWA5B2

NM_001390846.1:p.T121K

hg38:chr3:184233229 C>A

Associated Papers

Trio exome sequencing of an optic nerve hypoplasia cohort reveals evidence for polygenic architecture.

Aparicio JG et al.

Ophthalmic Genetics, 2025

40887606 (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."