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: mmc3.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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val8
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction.
Ma ACH et al.
Circulation. Genomic and Precision Medicine, 2020
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1841.646
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