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DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Patients with developmental disorders often harbour sub-microscopic deletions or duplications that lead to a disruption of normal gene expression or perturbation in the copy number of dosage-sensitive genes. Clinical interpretation for such patients in isolation is hindered by the rarity and novelty...

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Detalhes bibliográficos
Main Authors: Swaminathan, Ganesh J., Bragin, Eugene, Chatzimichali, Eleni A., Corpas, Manuel, Bevan, A. Paul, Wright, Caroline F., Carter, Nigel P., Hurles, Matthew E., Firth, Helen V.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459644/
https://ncbi.nlm.nih.gov/pubmed/22962312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds362
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