Spurdle, Amanda B <br/><br/>
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.  [electronic resource] 

 -  Journal of medical genetics  Aug 2012 
 - 525-32 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-101037  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aged<br/>BRCA1 Protein--genetics<br/>Breast Neoplasms--genetics<br/>Female<br/>Genetic Predisposition to Disease<br/>Genetic Testing<br/>Genotyping Techniques<br/>HEK293 Cells<br/>Humans<br/>Likelihood Functions<br/>Mutation<br/>Ovarian Neoplasms--genetics<br/>Pedigree<br/>Penetrance<br/>Predictive Value of Tests<br/>Risk Factors<br/>Transcriptional Activation