de la Hoya, Miguel <br/><br/>
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.  [electronic resource] 

 -  Human molecular genetics  06 2016 
 - 2256-2268 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddw094  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Aged<br/>Alternative Splicing--genetics<br/>BRCA1 Protein--genetics<br/>Breast Neoplasms--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Gene Expression Regulation, Neoplastic<br/>Humans<br/>Middle Aged<br/>Mutation--genetics<br/>Ovarian Neoplasms--genetics<br/>RNA Splice Sites--genetics<br/>RNA Splicing--genetics<br/>Tumor Suppressor Proteins--genetics