Associated Papers
Neuro-ophthalmic disorders resulting from defects in the gamma tubulin ring complex: a clinically oriented review.
Helms M et al.
Ophthalmic Genetics, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.
Yu T et al.
Frontiers in Pediatrics, 2025
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Mitani T et al.
American Journal of Human Genetics, 2019
Select a paper to view details