Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

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http://www.wikidata.org/entity/Q37492561
Clinical and Mechanistic Insights Into the Genetics of CardiomyopathyNext-generation gene discovery for variants of large impact on lipid traitsGenotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cellsRbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.Whole-exome sequencing in familial atrial fibrillation.Pharmacological Modulation of Calcium Homeostasis in Familial Dilated Cardiomyopathy: An In Vitro Analysis From an RBM20 Patient-Derived iPSC ModelGenetic profiling for risk reduction in human cardiovascular disease.Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine.Functional roles of alternative splicing factors in human disease.Strategic Integration of Multiple Bioinformatics Resources for System Level Analysis of Biological Networks.Alternative splicing as a regulator of development and tissue identity.Identification of differentially expressed genes during development of the zebrafish pineal complex using RNA sequencing.Splicing Factor RBM20 Regulates Transcriptional Network of Titin Associated and Calcium Handling Genes in The Heart.Exploring the Crosstalk Between and Splicing Machinery Gene Mutations in Dilated Cardiomyopathy
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Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy.

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http://www.wikidata.org/entity/Q37492561
description
article científic
@ca
article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Whole exome sequencing identif ...... milial dilated cardiomyopathy.
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Whole exome sequencing identif ...... milial dilated cardiomyopathy.
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type
label
Whole exome sequencing identif ...... milial dilated cardiomyopathy.
@en
Whole exome sequencing identif ...... milial dilated cardiomyopathy.
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prefLabel
Whole exome sequencing identif ...... milial dilated cardiomyopathy.
@en
Whole exome sequencing identif ...... milial dilated cardiomyopathy.
@nl
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Whole exome sequencing identif ...... milial dilated cardiomyopathy.
@en
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10.1161/CIRCGENETICS.113.000011
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