Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.R1117*
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TJP1

NM_001330239.4:p.R1117*

Associated Papers

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications.

Delling JP et al.

Journal of Neurodevelopmental Disorders, 2021

Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy.

Javed S et al.

Neuroscience and Biobehavioral Reviews, 2020

SHANK proteins: roles at the synapse and in autism spectrum disorder.

Monteiro P et al.

Nature Reviews. Neuroscience, 2017

Modeling autism by SHANK gene mutations in mice.

Jiang YH et al.

Neuron, 2013

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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."