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Refinado por: materia: Genes, Neoplasm eliminar
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1
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Plon, Sharon E ; Eccles, Diana M ; Easton, Douglas ; Foulkes, William D ; Genuardi, Maurizio ; Greenblatt, Marc S ; Hogervorst, Frans B.L ; Hoogerbrugge, Nicoline ; Spurdle, Amanda B ; Tavtigian, Sean V

Human mutation, 2008-11, Vol.29 (11), p.1282-1291 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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2
In silico analysis of missense substitutions using sequence-alignment based methods
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In silico analysis of missense substitutions using sequence-alignment based methods

Tavtigian, Sean V ; Greenblatt, Marc S ; Lesueur, Fabienne ; Byrnes, Graham B

Human mutation, 2008-11, Vol.29 (11), p.1327-1336 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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3
Prediction and assessment of splicing alterations: implications for clinical testing
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Prediction and assessment of splicing alterations: implications for clinical testing

Spurdle, Amanda B ; Couch, Fergus J ; Hogervorst, Frans B.L ; Radice, Paolo ; Sinilnikova, Olga M

Human mutation, 2008-11, Vol.29 (11), p.1304-1313 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes
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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

Greenblatt, Marc S ; Brody, Lawrence C ; Foulkes, William D ; Genuardi, Maurizio ; Hofstra, Robert M.W ; Olivier, Magali ; Plon, Sharon E ; Sijmons, Rolf H ; Sinilnikova, Olga ; Spurdle, Amanda B

Human mutation, 2008-11, Vol.29 (11), p.1273-1281 [Revista revisada por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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