Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.S162F
Back to variants list

TGIF1

NM_003244.4:p.S162F

Associated Papers

New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly.

de Castro VF et al.

Molecular Syndromology, 2021

Canonical TGF-β Signaling Negatively Regulates Neuronal Morphogenesis through TGIF/Smad Complex-Mediated CRMP2 Suppression.

Nakashima H et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

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

Keaton AA et al.

Molecular Syndromology, 2010

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB et al.

Molecular Genetics and Metabolism, 2007

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."