Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.T158M
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SHANK3

NM_001372044.2:p.T158M

Associated Papers

MECP2-related disorders while gene-based therapies are on the horizon.

Allison K et al.

Frontiers in Genetics, 2024

Safety and efficacy of genetic MECP2 supplementation in the R294X mouse model of Rett syndrome.

Collins BE et al.

Genes, Brain, and Behavior, 2022

JNK signaling provides a novel therapeutic target for Rett syndrome.

Musi CA et al.

Bmc Biology, 2021

Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review.

Sanfeliu A et al.

Neuroscience, 2019

Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Lee BH et al.

Epilepsy & Behavior : E&b, 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."