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
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A et al.
American Journal of Medical Genetics. Part A, 2023
Genetic diagnosis of fetal microcephaly at a single tertiary center in China.
Wang Y et al.
Frontiers in Genetics, 2023
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Gungor S et al.
Iscience, 2021
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