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
Multiple Fibrolipomas of the Tongue: A Rare Case Report of a Pediatric Patient With Whole Exome Sequencing of the C2CD3 Gene.
Alomari F et al.
Case Reports in Dentistry, 2024
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