Varaico: Literature-Extracted Genetic Variants

Gene:FGF9
Variant:p.D195A
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FGF9

NM_002010.3:p.D195A

Associated Papers

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala M et al.

Human Mutation, 2017

Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization.

Liu Y et al.

Structure (london, England : 1993), 2017

The pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growth.

Puk O et al.

Plos One, 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."