When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans

Michelle W. Wong‐Brown(Peter MacCallum Cancer Centre), Rodney J. Scott(New South Wales Department of Health), Margaret Gleeson(Hunter New England Local Health District), S Dooley(John Hunter Hospital), Mary McPhillips(John Hunter Hospital), Allan D. Spigelman(Cancer Institute of New South Wales), Cliff Meldrum(New South Wales Department of Health)
Hereditary Cancer in Clinical Practice
February 16, 2016
Cited by 6


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