Varaico: Literature-Extracted Genetic Variants

Gene:TCTN1
Variant:p.R300*
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TCTN1

NM_001082538.3:p.R300*

Associated Papers

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

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

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

Srour M et al.

American Journal of Human Genetics, 2015

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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."