Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Y174*
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PITX2

NM_000325.6:p.Y174*

Associated Papers

Genetic and phenotypic heterogeneity of tooth agenesis: An update including candidate genes.

Li W et al.

Archives of Oral Biology, 2025

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Vetriselvan Y et al.

Biochemical Genetics, 2025

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

Tian Y et al.

Ophthalmic Genetics, 2024

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.

Brauner R et al.

Plos One, 2023

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.

Yue H et al.

Molecular Genetics & Genomic Medicine, 2022

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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."