Associated Papers
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Álvarez-Satta M et al.
Journal of Cellular and Molecular Medicine, 2017
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