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
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.
Huang L et al.
Journal of Ophthalmology, 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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