Associated Papers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F et al.
Human Mutation, 2015
26316326 (PubMed )
Supplement: HUMU-36-1188-s001.pdf
Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.
Carén H et al.
British Journal of Cancer, 2007
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