Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

PURPOSE: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype–phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed. METHODS: We extracted phenotypic information from primary descriptions o...

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Detalles Bibliográficos
Autores principales: Crawford, Katherine, Xian, Julie, Helbig, Katherine L., Galer, Peter D., Parthasarathy, Shridhar, Lewis-Smith, David, Kaufman, Michael C., Fitch, Eryn, Ganesan, Shiva, O’Brien, Margaret, Codoni, Veronica, Ellis, Colin A., Conway, Laura J., Taylor, Deanne, Krause, Roland, Helbig, Ingo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257493/
https://www.ncbi.nlm.nih.gov/pubmed/33731876
http://dx.doi.org/10.1038/s41436-021-01120-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8257493/
https://www.ncbi.nlm.nih.gov/pubmed/33731876
http://dx.doi.org/10.1038/s41436-021-01120-1

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