Varaico: Literature-Extracted Genetic Variants

Gene:TCTN2
Variant:p.G412Splc
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TCTN2

NM_024809.5:p.G412Splc

Associated Papers

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

Zhang M et al.

Journal of Human Genetics, 2020

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

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L et al.

Cell, 2011

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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."