Associated Papers
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
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM1_ESM.pdf
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