Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q67*
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PITX2

NM_153426.3:p.Q67*

Associated Papers

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

Huang L et al.

Journal of Ophthalmology, 2019

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Hernández-Martínez N et al.

Ophthalmic Genetics, 2018

Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.

Law SK et al.

Molecular Vision, 2011

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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."