Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.V126A
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TGIF1

NM_003244.4:p.V126A

Associated Papers

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Paulussen AD et al.

European Journal of Human Genetics : Ejhg, 2010

TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.

Keaton AA et al.

Molecular Syndromology, 2010

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Richieri-Costa A et al.

Brain & Development, 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."