Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB
Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Li C et al.
Clinical Genetics, 2024
A case of corneal cystinosis in a patient with rickets and chronic renal failure.
Won JY et al.
Indian Journal of Ophthalmology, 2015
Select a paper to view details