Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

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http://www.wikidata.org/entity/Q34277906
BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.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.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.KRAS mutation status is associated with specific pattern of genes expression in pancreatic adenocarcinoma.BRCA1 exon 11 a model of long exon splicing regulation.SpliceAid-F: a database of human splicing factors and their RNA-binding sites.A study of splicing mutations in disorders of sex development.Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
P2860

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11

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http://www.wikidata.org/entity/Q34277906
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2012 nî lūn-bûn
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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2012 թվականի մայիսին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@ast
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@en
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@nl
type
label
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@ast
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@en
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@nl
prefLabel
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@ast
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@en
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0037255
P407
P433
P478
P50
P577
P5875
P698
P932