Varaico: Literature-Extracted Genetic Variants

Gene:TGIF1
Variant:p.Y59*
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TGIF1

NM_003244.4:p.Y59*

Associated Papers

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.

Haarman AEG et al.

Ophthalmology Science, 2023

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

Functional analysis of mutations in TGIF associated with holoprosencephaly.

El-Jaick KB et al.

Molecular Genetics and Metabolism, 2007

Intragenic deletion of Tgif causes defectsin brain development.

Kuang C et al.

Human Molecular Genetics, 2006

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."