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

We present a generic, multidisciplinary approach for improving our understanding of novel missense variants in recently discovered disease genes exhibiting genetic heterogeneity, by combining clinical and population genetics with protein structural analysis. Using six new de novo missense diagnoses...

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Detalles Bibliográficos
Autores principales: Laskowski, Roman A., Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M., Firth, Helen V., Wright, Caroline F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754046/
https://www.ncbi.nlm.nih.gov/pubmed/26740553
http://dx.doi.org/10.1093/hmg/ddv625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754046/
https://www.ncbi.nlm.nih.gov/pubmed/26740553
http://dx.doi.org/10.1093/hmg/ddv625

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