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List of works by Shelagh Joss

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

scientific article published on 5 January 2016

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

scientific article published on 20 June 2017

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