Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R130_V131Splc
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PITX2

NM_001204397.2:p.R130_V131Splc

Associated Papers

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.

Zhang F et al.

International Ophthalmology, 2021

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Souzeau E et al.

European Journal of Human Genetics : Ejhg, 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."