Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q50*
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PITX2

NM_153427.3:p.Q50*

Associated Papers

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

Tian Y et al.

Ophthalmic Genetics, 2024

Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.

Fan Z et al.

Oral Diseases, 2019

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants.

Pérez-Solórzano S et al.

Clinical & Experimental Ophthalmology, 2017

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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."