Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature

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Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature

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scientific article published on 25 October 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Lamin mutation location predic ...... is of the published literature

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Lamin mutation location predic ...... is of the published literature

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Lamin mutation location predic ...... is of the published literature

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Lamin mutation location predic ...... is of the published literature

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Lamin mutation location predic ...... is of the published literature

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Lamin mutation location predic ...... is of the published literature

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P1476

Lamin mutation location predic ...... is of the published literature

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Ben O'Brien

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Dina Radenkovic

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Gabriella Captur

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William J Mckenna

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P2860

Entrez Gene: gene-centered information at NCBI

Analysis of protein-coding genetic variation in 60,706 humans

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the

Taverna: a tool for the composition and enactment of bioinformatics workflows

ClinVar: public archive of interpretations of clinically relevant variants

The Phyre2 web portal for protein modeling, prediction and analysis

Nuclear localization signal deletion mutants of lamin A and progerin reveal insights into lamin A processing and emerin targeting

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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e000915

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scholarly article

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10.1136/OPENHRT-2018-000915

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English

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Eloisa Arbustini

James Moon

Petros Syrris

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2018-10-25T00:00:00Z

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30402260

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6203068

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