Characteristics of rare and private deletions identified in phenotypically normal individuals

Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not alwa...

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Detalles Bibliográficos
Autores principales: Shimojima, Keiko, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597573/
https://www.ncbi.nlm.nih.gov/pubmed/28912957
http://dx.doi.org/10.1038/hgv.2017.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597573/
https://www.ncbi.nlm.nih.gov/pubmed/28912957
http://dx.doi.org/10.1038/hgv.2017.37

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