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
Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals.
Nguyen HH et al.
Molecular Vision, 2021
Novel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress.
Li Y et al.
Frontiers in Cell and Developmental Biology, 2020
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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