DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretati...

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Autors principals: Firth, Helen V., Richards, Shola M., Bevan, A. Paul, Clayton, Stephen, Corpas, Manuel, Rajan, Diana, Vooren, Steven Van, Moreau, Yves, Pettett, Roger M., Carter, Nigel P.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2009
Matèries:
Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2667985/
https://ncbi.nlm.nih.gov/pubmed/19344873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.010
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