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SHANK3, ARG536TRP

 
National Institutes of Health

Papers overview

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Review
2018
Review
2018
SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3… Expand
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2016
2016
Autism spectrum disorders affect millions of individuals worldwide, but their heterogeneity complicates therapeutic intervention… Expand
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2015
2015
BackgroundDeletions and mutations involving the SHANK3 gene lead to a nonspecific clinical presentation with moderate to profound… Expand
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Review
2013
Review
2013
Autism spectrum disorders (ASD) are etiologically heterogeneous, with hundreds of rare, highly penetrant mutations and genomic… Expand
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Highly Cited
2010
Highly Cited
2010
BackgroundSHANK3 is a protein in the core of the postsynaptic density (PSD) and has a critical role in recruiting many key… Expand
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2006
2006
A class of scaffolding protein containing the post-synaptic density-95/Dlg/ZO-1 (PDZ) domain is thought to be involved in… Expand
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