Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening

Pompe disease is an inherited disorder caused by disease‐associated variants in the acid α‐glucosidase gene (GAA). The Pompe disease GAA variant database (http://www.pompevariantdatabase.nl) is a curated, open‐source, disease‐specific database, and lists disease‐associated GAA variants, in silico pr...

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Detalles Bibliográficos
Autores principales: de Faria, Douglas O. S., in ‘t Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898817/
https://www.ncbi.nlm.nih.gov/pubmed/33560568
http://dx.doi.org/10.1002/humu.24148

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