Associated Papers
Biallelic novel CCDC186 loss-of-function variant disrupting the gene function causes neurodevelopmental phenotype and review of the literature.
Gezdirici A et al.
Brain & Development, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Brugger M et al.
Annals of Clinical and Translational Neurology, 2021
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
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