DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

The DECIPHER database (https://decipher.sanger.ac.uk/) is an accessible online repository of genetic variation with associated phenotypes that facilitates the identification and interpretation of pathogenic genetic variation in patients with rare disorders. Contributing to DECIPHER is an internation...

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Detalles Bibliográficos
Autores principales: Bragin, Eugene, Chatzimichali, Eleni A., Wright, Caroline F., Hurles, Matthew E., Firth, Helen V., Bevan, A. Paul, Swaminathan, G. Jawahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
VI. Genomic variation, diseases and drugs
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078/
https://www.ncbi.nlm.nih.gov/pubmed/24150940
http://dx.doi.org/10.1093/nar/gkt937

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