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Mutations in the non-coding genome

PURPOSE OF REVIEW: Clinical diagnostic sequencing currently focuses on identifying causal mutations in the exome, where most disease-causing mutations are known to occur. The rest of the genome is mostly comprised of regulatory elements that control gene expression, but these have remained largely u...

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Detalhes bibliográficos
Publicado no:Curr Opin Pediatr
Main Authors: Scacheri, Cheryl A., Scacheri, Peter C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5084913/
https://ncbi.nlm.nih.gov/pubmed/26382709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000283
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