BRCA1 Circos: a visualisation resource for functional analysis of missense variants

BACKGROUND: Inactivating germline mutations in the tumour suppressor gene BRCA1 are associated with a significantly increased risk of developing breast and ovarian cancer. A large number (>1500) of unique BRCA1 variants have been identified in the population and can be classified as pathogenic, n...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Jhuraney, Ankita, Velkova, Aneliya, Johnson, Randall C, Kessing, Bailey, Carvalho, Renato S, Whiley, Phillip, Spurdle, Amanda B, Vreeswijk, Maaike P G, Caputo, Sandrine M, Millot, Gael A, Vega, Ana, Coquelle, Nicolas, Galli, Alvaro, Eccles, Diana, Blok, Marinus J, Pal, Tuya, van der Luijt, Rob B, Santamariña Pena, Marta, Neuhausen, Susan L, Donenberg, Talia, Machackova, Eva, Thomas, Simon, Vallée, Maxime, Couch, Fergus J, Tavtigian, Sean V, Glover, J N Mark, Carvalho, Marcelo A, Brody, Lawrence C, Sharan, Shyam K, Monteiro, Alvaro N
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2015
Assuntos:
Cancer Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4392196/
https://ncbi.nlm.nih.gov/pubmed/25643705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2014-102766
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