Associated Papers
Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis.
Sentell ZT et al.
Human Molecular Genetics, 2025
39690811 (PubMed )
Supplement: supplementary_materials_hmg_rev_2024-11-23_clean_ddae182.docx
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity.
Phelps IG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28771248 (PubMed )
Supplement: NIHMS885103-supplement-Supplementary___Appendix__online_only_material__etc___3.pdf
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