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Ohnologs are overrepresented in pathogenic copy number mutations

A number of rare copy number variants (CNVs), including both deletions and duplications, have been associated with developmental disorders, including schizophrenia, autism, intellectual disability, and epilepsy. Pathogenicity may derive from dosage sensitivity of one or more genes contained within t...

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Detalhes bibliográficos
Main Authors: McLysaght, Aoife, Makino, Takashi, Grayton, Hannah M., Tropeano, Maria, Mitchell, Kevin J., Vassos, Evangelos, Collier, David A.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3890797/
https://ncbi.nlm.nih.gov/pubmed/24368850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1309324111
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