Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.E1311delFs
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SHANK3

NM_001372044.2:p.E1311delFs

Associated Papers

Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.

Srinath S et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

De Rubeis S et al.

Molecular Autism, 2018

29719671 (PubMed )
Supplement: 13229_2018_205_MOESM1_ESM.xlsx › Table_S1

Autism genetics.

Persico AM et al.

Behavioural Brain Research, 2013

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Boccuto L et al.

European Journal of Human Genetics : Ejhg, 2013

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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."