Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.Q162*
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PITX2

NM_153427.3:p.Q162*

Associated Papers

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

Tian Y et al.

Ophthalmic Genetics, 2024

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Chesneau B et al.

Clinical Genetics, 2022

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_1

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."