Literature DB >> 11428389

A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23.

K Laskie Ostrow, R A DiCioccio, V McGuire, A S Whittemore.   

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Year:  2001        PMID： 11428389     DOI： 10.1016/s0165-4608(01)00433-2

Source DB:  PubMed          Journal:  Cancer Genet Cytogenet        ISSN： 0165-4608


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  2 in total

1.  Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

Authors:  Maxime P Vallée; Tonya L Di Sera; David A Nix; Andrew M Paquette; Michael T Parsons; Russel Bell; Andrea Hoffman; Frans B L Hogervorst; David E Goldgar; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2016-04-15       Impact factor: 4.878

2.  Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

Authors:  Ane Y Steffensen; Mette Dandanell; Lars Jønson; Bent Ejlertsen; Anne-Marie Gerdes; Finn C Nielsen; Thomas vO Hansen
Journal:  Eur J Hum Genet       Date:  2014-03-26       Impact factor: 4.246
  2 in total

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