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
The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies.
Udupa P et al.
Traffic (copenhagen, Denmark), 2024
Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.
Ishida Y et al.
Molecular Biology of the Cell, 2022
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Dupont MA et al.
Human Molecular Genetics, 2019
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
Chen X et al.
Investigative Ophthalmology & Visual Science, 2018
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
Girisha KM et al.
Clinical Genetics, 2016
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