Associated Papers
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.
Radhakrishnan P et al.
Clinical Genetics, 2025
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
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