Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene

BACKGROUND: Copy number variations (CNVs) can contribute to variable degrees of fitness and/or disease predisposition. Recent studies show that at least 1% of any given genome is copy number variable when compared to the human reference sequence assembly. Homozygous deletions (or CNV nulls) that are...

Descripción completa

Detalles Bibliográficos
Autores principales: Ghahramani Seno, Mohammad M, Kwan, Benjamin YM, Lee-Ng, Ka Ki M, Moessner, Rainald, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072306/
https://www.ncbi.nlm.nih.gov/pubmed/21439084
http://dx.doi.org/10.1186/1471-2350-12-45

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3072306/
https://www.ncbi.nlm.nih.gov/pubmed/21439084
http://dx.doi.org/10.1186/1471-2350-12-45

Ejemplares similares