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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBI

Variant:p.A147T

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TGFBI

NM_000358.3:p.A147T

hg38:chr5:136046475 G>A

Associated Papers

TGFBI R124H mutant allele silencing in granular corneal dystrophy type 2 using topical siRNA delivery.

McLain A et al.

Journal of Controlled Release : Official Journal of the Controlled Release Society, 2025

40185334 (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."