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9941. BRCA1 Circos: a visualisation resource for functional analysis of missense variants. Issue 4 (2nd February 2015)

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;...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 4(2015)
Page Start:
224
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9942. BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Issue 8 (12th August 2012)

Authors:
Spurdle, Amanda B; Whiley, Phillip J; Thompson, Bryony; Feng, Bingjian; Healey, Sue; Brown, Melissa A; Pettigrew, Christopher; Van Asperen, Christi J; Ausems, Margreet G E M; Kattentidt-Mouravieva, Anna A; van den Ouweland, Ans M W; Belgium UV Consortium, Dutch; Lindblom, Annika; Pigg, Maritta H;...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 8(2012)
Page Start:
525
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗