Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

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http://www.wikidata.org/entity/Q52585143
Pdro, a protein associated with late endosomes and lysosomes and implicated in cellular cholesterol homeostasisThe dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutationsGuidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variantsAnalysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Prediction and assessment of splicing alterations: implications for clinical testing.Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.BRCA1 Gene Mutations in Breast Cancer Patients from Kerman Province, IranNext-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genesGT198 Splice Variants Display Dominant-Negative Activities and Are Induced by Inactivating MutationsAdding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
P2860

Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.

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http://www.wikidata.org/entity/Q52585143
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2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
@zh-hans
2008年学术文章
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2008年学术文章
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2008年學術文章
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name
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@en
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@nl
type
label
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@en
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@nl
prefLabel
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@en
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698