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DMD Open‐access Variant Explorer (DOVE): A scalable, open‐access, web‐based tool to aid in clinical interpretation of genetic variants in the DMD gene

BACKGROUND: Duchenne muscular dystrophy (Duchenne) is caused by pathogenic variants in the DMD gene. Antisense oligonucleotides (AONs) are one emerging precision medicine treatment for Duchenne. DMD molecular genetic testing results guide precision‐therapy molecular eligibility, requiring healthcare...

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Detalles Bibliográficos
Autores principales: Bailey, Mitchell, Miller, Nicole
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382494/
https://www.ncbi.nlm.nih.gov/pubmed/30450799
http://dx.doi.org/10.1002/mgg3.510