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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: McLysaght, Aoife, Makino, Takashi, Grayton, Hannah M., Tropeano, Maria, Mitchell, Kevin J., Vassos, Evangelos, Collier, David A.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2014
Teme:
Biological Sciences
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki