Genetic & Genomic Medicinenpj Genomic MedicinePeer-reviewed
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
Livia Oliveira Loureiro, Jennifer Howe, Miriam S. Reuter…·Stephen W. Scherer
The paper identifies a recurrent SHANK3 frameshift variant in Autism Spectrum Disorder, showing de novo mutations and variable expressivity.
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