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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBI

Variant:p.R555L

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TGFBI

NM_000358.3:p.R555L

hg38:chr5:136056781 G>T

Associated Papers

TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Ma K et al.

Molecular Vision, 2010

20360992 (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."