Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.S556insFs
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TGFBI

NM_000358.3:p.S556insFs

Associated Papers

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

Song FW et al.

Journal of Zhejiang University. Science. B, 2013

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy.

Long Y et al.

Journal of Zhejiang University. Science. B, 2011

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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."