Varaico: Literature-Extracted Genetic Variants

Gene:PITX2
Variant:p.R91W
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PITX2

NM_000325.6:p.R91W

Associated Papers

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

Vetriselvan Y et al.

Biochemical Genetics, 2025

Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish.

Zhang Y et al.

Nature Communications, 2024

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM et al.

Journal of Medical Genetics, 2023

35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf

A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.

Yang Y et al.

Oral Diseases, 2018

PITX2 deficiency and associated human disease: insights from the zebrafish model.

Hendee KE et al.

Human Molecular Genetics, 2018

A novel PITX2 mutation in non-syndromic orodental anomalies.

Intarak N et al.

Oral Diseases, 2018

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Seifi M et al.

Plos One, 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."