Associated Papers
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review.
Eiumtrakul W et al.
Journal of Human Genetics, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration.
Sangermano R et al.
Advances in Experimental Medicine and Biology, 2025
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B et al.
Jci Insight, 2023
Confirming TBC1D32-related ciliopathy in humans.
Alsahan N et al.
American Journal of Medical Genetics. Part A, 2020
Select a paper to view details