Varaico: Literature-Extracted Genetic Variants

Gene:TCTN3
Variant:p.C481fs
Back to variants list

TCTN3

NM_015631.6:p.C481fs

Associated Papers

Expansion of the Genotypic and Phenotypic Spectrum of TCTN3-Related Joubert Syndrome.

Lo Giudice M et al.

Genes, 2025

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndrome.

Huang LX et al.

Frontiers in Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."