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
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 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.
Yang Y et al.
Oral Diseases, 2018
A novel PITX2 mutation in non-syndromic orodental anomalies.
Intarak N et al.
Oral Diseases, 2018
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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