Associated Papers
Novel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.
Yang Q et al.
Molecular Genetics & Genomic Medicine, 2025
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
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Roosing S et al.
Elife, 2015
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