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CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein

BACKGROUND: Lynch syndrome is a hereditary cancer predisposition syndrome caused by a mutation in one of the DNA mismatch repair (MMR) genes. About 24% of the mutations identified in Lynch syndrome are missense substitutions and the frequency of missense variants in MSH6 is the highest amongst these...

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Detalles Bibliográficos
Autores principales: Terui, Hiroko, Akagi, Kiwamu, Kawame, Hiroshi, Yura, Kei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651391/
https://www.ncbi.nlm.nih.gov/pubmed/23621914
http://dx.doi.org/10.1186/1423-0127-20-25