Načítá se...

Loss-of-function variants in the genomes of healthy humans

Genetic variants predicted to seriously disrupt the function of human protein-coding genes—so-called loss-of-function (LOF) variants—have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: MacArthur, Daniel G., Tyler-Smith, Chris
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2953739/
https://ncbi.nlm.nih.gov/pubmed/20805107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq365
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!