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An Efficient Pipeline for the Generation and Functional Analysis of Human BRCA2 Variants of Uncertain Significance

✍ Scribed by Hendriks, Giel; Morolli, Bruno; Calléja, Fabienne M.G.R.; Plomp, Anouk; Mesman, Romy L.S.; Meijers, Matty; Sharan, Shyam K.; Vreeswijk, Maaike P.G.; Vrieling, Harry

Book ID
126611346
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
888 KB
Category
Article
ISSN
1059-7794

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Although in vitro splicing assays can provide useful information about the clinical interpretation of sequence variants in high-risk cancer genes such as BRCA1 and BRCA2, results can sometimes be difficult to interpret. The BRCA1 c.135-1G>T (IVS3-1G>T) variant has been shown to give rise to an in-fr