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- URN zum Zitieren dieses Dokuments:
- urn:nbn:de:bvb:355-epub-353437
- DOI zum Zitieren dieses Dokuments:
- 10.5283/epub.35343
Spurdle, A. B. ; Whiley, P. J. ; Thompson, B. ; Feng, B. ; Healey, S. ; Brown, M. A. ; Pettigrew, C. ; kConFab, . ; Van Asperen, C. J. ; Weber, Bernhard H. F. 
; Dutch Belgium UV Consortium, . ; German Consortium of Hereditary Breast and Ovarian Cancer, . ; French COVAR group collaborators, . ; on behalf of the ENIGMA Consortium, .
; Dutch Belgium UV Consortium, . ; German Consortium of Hereditary Breast and Ovarian Cancer, . ; French COVAR group collaborators, . ; on behalf of the ENIGMA Consortium, . Zusammenfassung
Background Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants. We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, ...
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