Varaico: Literature-Extracted Genetic Variants

Gene:TMTC3
Variant:p.R71H
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TMTC3

NM_181783.4:p.R71H

Associated Papers

Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.

Eisenhaber B et al.

Biology Direct, 2021

Novel compound variants of the TMTC3 gene cause cobblestone lissencephaly-like syndrome: A case report.

Liu G et al.

Experimental and Therapeutic Medicine, 2020

Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation.

Graham JB et al.

Molecular Biology of the Cell, 2020

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Farhan SMK et al.

Human Molecular Genetics, 2017

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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."