Associated Papers
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.
Mercier E et al.
Plos Genetics, 2025
40996958 (PubMed )
Supplement: pgen.1011801.s014.pdf
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
38928247 (PubMed )
Supplement: ijms-25-06540-s001.zip › Manuscript_WGS_Table_S3.pdf
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