Associated Papers
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Davydenko K et al.
Journal of Cellular and Molecular Medicine, 2025
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Wang L et al.
Orphanet Journal of Rare Diseases, 2024
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Andhika NS et al.
European Journal of Human Genetics : Ejhg, 2024
38849599 (PubMed )
Supplement: 41431_2024_1638_MOESM2_ESM.xlsx › Suppl-Table-2a_validation
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B et al.
European Journal of Human Genetics : Ejhg, 2016
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