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WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease

Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency of 1 in 90 and a prevalence of 1 in 30,000. The disease owes its genesis to Kinnier Wilson who described the disease, and is caused by accumulation of Copper (Cu) in various organs including...

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Detalles Bibliográficos
Autores principales: Kumar, Mukesh, Gaharwar, Utkarsh, Paul, Sangita, Poojary, Mukta, Pandhare, Kavita, Scaria, Vinod, BK, Binukumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270127/
https://www.ncbi.nlm.nih.gov/pubmed/32493955
http://dx.doi.org/10.1038/s41598-020-66099-2