BRCA1 Circos: a visualisation resource for functional analysis of missense variants. - Test2 - elhamkhani - TriplyDB

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

http://www.wikidata.org/entity/Q35350825

about

PALB2: research reaching to clinical outcomes for women with breast cancer Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making When Genome Maintenance Goes Badly Awry.Target and Agent Prioritization for the Children's Oncology Group-National Cancer Institute Pediatric MATCH Trial.Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.Hereditary breast and ovarian cancer: new genes in confined pathways.Expression of cancer related BRCA1 missense variants decreases MMS-induced recombination in Saccharomyces cerevisiae without altering its nuclear localization.Rare germline variants in ATM are associated with chronic lymphocytic leukemia.Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.Increased centrosome number in BRCA-related breast cancer specimens determined by immunofluorescence analysis.A new bioinformatics tool to help assess the significance of BRCA1 variants.

P2860

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P2860

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

http://www.wikidata.org/entity/Q35350825

description

2015 nî lūn-bûn

@nan

2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի փետրվարին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

@zh-hk

2015年論文

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2015年論文

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2015年论文

@wuu

name

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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type

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

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JMEDGENET-2014-102766

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Journal of Medical Genetics

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BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

@en

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Ana Vega

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Aneliya Velkova

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Ankita Jhuraney

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Bailey Kessing

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Eva Machackova

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Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium

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Gael A Millot

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J N Mark Glover

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Lawrence C Brody

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Maaike P G Vreeswijk

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P2860

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium

A guide for functional analysis of BRCA1 variants of uncertain significance

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

Genetic analysis of BRCA1 function in a defined tumor cell line

Circos: an information aesthetic for comparative genomics

Identification of the breast cancer susceptibility gene BRCA2

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.

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224-230

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10.1136/JMEDGENET-2014-102766

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4

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Maxime P Vallée

Randall Johnson

Amanda B. Spurdle

Sandrine Caputo

Nicolas Coquelle

Marcelo A Carvalho

Rob B van der Luijt

Alvaro Monteiro

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2015-02-02T00:00:00Z

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