Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.E55*
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PITX2

NM_000325.6:p.E55*

Associated Papers

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

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Tümer Z et al.

European Journal of Human Genetics : Ejhg, 2009

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V et al.

Molecular Vision, 2006

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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."