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2019 | 3 |
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Page 1
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818.
Hum Mutat. 2019.
PMID: 31131967
Free PMC article.
Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells.
Lattimore VL, Pearson JF, Morley-Bunker AE; kConFab Investigators; Spurdle AB, Robinson BA, Currie MJ, Walker LC.
Lattimore VL, et al.
Int J Mol Sci. 2019 Feb 6;20(3):693. doi: 10.3390/ijms20030693.
Int J Mol Sci. 2019.
PMID: 30736279
Free PMC article.
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Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification.
Walker LC, Lattimore VL, Kvist A, Kleiblova P, Zemankova P, de Jong L, Wiggins GAR, Hakkaart C, Cree SL, Behar R, Houdayer C; kConFab Investigators; Parsons MT, Kennedy MA, Spurdle AB, de la Hoya M.
Walker LC, et al.
Front Genet. 2019 Nov 19;10:1139. doi: 10.3389/fgene.2019.01139. eCollection 2019.
Front Genet. 2019.
PMID: 31803232
Free PMC article.
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Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.
Lattimore VL, Pearson JF, Currie MJ, Spurdle AB; kConFab Investigators; Robinson BA, Walker LC.
Lattimore VL, et al.
Front Oncol. 2018 May 3;8:140. doi: 10.3389/fonc.2018.00140. eCollection 2018.
Front Oncol. 2018.
PMID: 29774201
Free PMC article.
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