Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.L159delFs
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PITX2

NM_153427.3:p.L159delFs

Associated Papers

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

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Kletke SN et al.

Ophthalmic Genetics, 2020

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.

Huang L et al.

Journal of Ophthalmology, 2019

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

Wang X et al.

Current Eye Research, 2018

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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."