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
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities.
Yi S et al.
Heliyon, 2024
Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene.
Rashvand Z et al.
Iranian Journal of Child Neurology, 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
A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Tuncel G et al.
Genes, 2021
Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.
Xie S et al.
Cell Reports, 2020
32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations
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