Associated Papers
Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics.
Abuelrub A et al.
Acs Chemical Neuroscience, 2025
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
38496842 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Ma ACH et al.
Circulation. Genomic and Precision Medicine, 2020
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