Varaico: Literature-Extracted Genetic Variants

Gene:TCTN3
Variant:p.K284_V285Splc
Back to variants list

TCTN3

NM_015631.6:p.K284_V285Splc

Associated Papers

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

Lo Giudice M et al.

Genes, 2025

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

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."