Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Reis LM et al.
Progress in Retinal and Eye Research, 2024
Corneal Plana-Like Phenotype With Peripheral Scleralization Associated With a Pathogenic Variant of PITX2 : A Case Report.
Franco E et al.
Cornea, 2023
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A novel PITX2 mutation in non-syndromic orodental anomalies.
Intarak N et al.
Oral Diseases, 2018
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.
Footz T et al.
Investigative Ophthalmology & Visual Science, 2009
Mutation in PITX2 is associated with ring dermoid of the cornea.
Xia K et al.
Journal of Medical Genetics, 2004
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