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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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Main Authors: McLysaght, Aoife, Makino, Takashi, Grayton, Hannah M., Tropeano, Maria, Mitchell, Kevin J., Vassos, Evangelos, Collier, David A.
Formáid: Artigo
Teanga:Inglês
Foilsithe: National Academy of Sciences 2014
Ábhair:
Rochtain Ar Líne: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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