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An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance.

The implementation of next-generation sequence analysis of disease-related genes has resulted in a increasing number of genetic variants with an unknown clinical significance. The functional analysis of these so-called “variants of uncertain significance” (VUS) is hampered by the tedious and time-co...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Hendriks, Giel, Morolli, Bruno, Calléja, Fabienne M.G.R., Plomp, Anouk, Mesman, Romy L.S., Meijers, Matty, Sharan, Shyam K., Vreeswijk, Maaike P.G., Vrieling, Harry
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6706860/
https://ncbi.nlm.nih.gov/pubmed/25146914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22678
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