Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
about
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.Hereditary breast and ovarian cancer: new genes in confined pathways.Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.Pancreatic cancer as a sentinel for hereditary cancer predisposition.Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair GenesComputational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
P2860
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P2860
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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2016年學術文章
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name
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@en
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@nl
type
label
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@en
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@nl
prefLabel
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@en
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@nl
P2093
P2860
P356
P1433
P1476
Adding In Silico Assessment of ...... CA Gene Unclassified Variants.
@en
P2093
Andrea Hoffman
Andrew M Paquette
David A Nix
David E Goldgar
Frans B L Hogervorst
Michael T Parsons
Russel Bell
Sean V Tavtigian
Tonya L Di Sera
P2860
P304
P356
10.1002/HUMU.22973
P577
2016-02-24T00:00:00Z