Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.A546V
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TGFBI

NM_000358.3:p.A546V

Associated Papers

p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I.

Yu P et al.

Genetic Testing, 2008

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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."