Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.S28C
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TGIF1

NM_003244.4:p.S28C

Associated Papers

Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism.

Li J et al.

Frontiers in Genetics, 2022

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.

Nakaguma M et al.

Genes, 2021

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

Wotton D et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018

Widespread macromolecular interaction perturbations in human genetic disorders.

Sahni N et al.

Cell, 2015

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB et al.

Molecular Genetics and Metabolism, 2007

A L225A substitution in the human tumour suppressor HIC1 abolishes its interaction with the corepressor CtBP.

Stankovic-Valentin N et al.

The Febs Journal, 2006

The interaction of the carboxyl terminus-binding protein with the Smad corepressor TGIF is disrupted by a holoprosencephaly mutation in TGIF.

Melhuish TA et al.

The Journal of Biological Chemistry, 2000

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

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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."