Associated Papers
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH et al.
Life Science Alliance, 2024
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A.
Bhattacharya A et al.
Human Molecular Genetics, 2024
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.
Yi S et al.
Heliyon, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
Novel alterations of CC2D1A as a candidate gene in a Turkish sample of patients with autism spectrum disorder.
Sener EF et al.
The International Journal of Neuroscience, 2022
Host Genetics, Innate Immune Responses, and Cellular Death Pathways in Poliomyelitis Patients.
Andersen NB et al.
Frontiers in Microbiology, 2019
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