Associated Papers
Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.
Lo Giudice M et al.
Genes, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
37217489 (PubMed )
Supplement: 41525_2023_352_MOESM2_ESM.xlsx › Hoja1
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
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