Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.M1insFs
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SHANK3

NM_001372044.2:p.M1insFs

Associated Papers

Neural connections and molecular mechanisms underlying motor skill deficits in genetic models of autism spectrum disorders.

Duan J et al.

Progress in Neurobiology, 2025

Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.

Forrest MP et al.

Nature Communications, 2023

Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder.

Kushima I et al.

Biological Psychiatry, 2022

The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

Holder JL et al.

Epilepsia, 2016

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Breckpot J et al.

European Journal of Medical Genetics, 2016

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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."