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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFB2

Variant:p.L330I

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TGFB2

NM_003238.6:p.L330I

hg38:chr1:218437398 C>A

Associated Papers

Corneal thinning and cornea guttata in patients with mutations in TGFB2.

Eghrari AO et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2020

32307099 (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."