Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R43W
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PITX2

NM_001204399.1:p.R43W

Associated Papers

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

Vetriselvan Y et al.

Biochemical Genetics, 2025

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

Fan Z et al.

Oral Diseases, 2019

Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.

Footz T et al.

Investigative Ophthalmology & Visual Science, 2009

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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."