Varaico: Literature-Extracted Genetic Variants

Gene:TCTN1
Variant:p.V74Splc
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TCTN1

NM_001082538.3:p.V74Splc

Associated Papers

Genetic background of ataxia in children younger than 5 years in Finland.

Ignatius E et al.

Neurology. 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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Garcia-Gonzalo FR et al.

Nature Genetics, 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."