Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.Q107L
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TGIF1

NM_003244.4:p.Q107L

Associated Papers

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB46

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL et al.

Human Mutation, 2018

TGIF1 homeodomain interacts with Smad MH1 domain and represses TGF-β signaling.

Guca E et al.

Nucleic Acids Research, 2018

30060237 (PubMed )
Supplement: gky680_supplemental_files.zip › Suppl._FIGs.pdf

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

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

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

Dubourg C et al.

Human Mutation, 2004

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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."