Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
ODAD1 variants resulting from splice-site mutations retain partial function and cause primary ciliary dyskinesia with outer dynein arm defects.
Zhou N et al.
Frontiers in Genetics, 2023
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
Ostrowski LE et al.
International Journal of Molecular Sciences, 2022
Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.
Chen X et al.
Experimental and Therapeutic Medicine, 2020
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