Associated Papers
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.
Lo Giudice M et al.
Genes, 2025
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review.
Huljev Frković S et al.
American Journal of Medical Genetics. Part A, 2022
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature.
Turkyilmaz A et al.
Genetic Testing and Molecular Biomarkers, 2021
Tectonic Proteins Are Important Players in Non-Motile Ciliopathies.
Gong S et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018
Tectonic gene mutations in patients with Joubert syndrome.
Huppke P et al.
European Journal of Human Genetics : Ejhg, 2015
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S et al.
American Journal of Human Genetics, 2012
Select a paper to view details