Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3
Variant:p.E1227delFs
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SHANK3

NM_001372044.2:p.E1227delFs

Associated Papers

Neurophysiological Profiles in a Family with Multiple SHANK3-Related Phelan-McDermid Syndrome Cases.

Neklyudova A et al.

International Journal of Molecular Sciences, 2026

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

Loureiro LO et al.

Npj Genomic Medicine, 2021

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
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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."