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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
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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Highly Cited
2006
Highly Cited
2006
A class of scaffolding protein containing the post‐synaptic density‐95/Dlg/ZO‐1 (PDZ) domain is thought to be involved in… Expand