Varaico: Literature-Extracted Genetic Variants

Gene:SHANK2
Variant:p.R598L
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SHANK2

NM_012309.5:p.R598L

Associated Papers

Structural Insights into Protein Mutations Related to Autism Spectrum Disorders: A Systematic Review.

Das MR et al.

Acs Chemical Neuroscience, 2025

Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants.

Eltokhi A et al.

Frontiers in Molecular Neuroscience, 2018

30072871 (PubMed )
Supplement: Table_1.pdf

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

Won H et al.

Frontiers in Molecular Neuroscience, 2013

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Leblond CS et al.

Plos Genetics, 2012

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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."