Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

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http://www.wikidata.org/entity/Q37346547
Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.Recent Advances in Understanding and Managing Cardiomyopathy.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.TITINdb-a computational tool to assess titin's role as a disease gene.Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.Precision medicine for cardiovascular disease : Learning lessons from cardiomyopathies.A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy
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Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Item
http://www.wikidata.org/entity/Q37346547
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 13 September 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@en
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@nl
type
label
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@en
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@nl
prefLabel
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@en
Combination of Whole Genome Se ...... eft Ventricular Noncompaction.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
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Combination of Whole Genome Se ...... Left Ventricular Noncompaction
@en
P2093
P2860
P304
P31
P356
10.1161/CIRCGENETICS.116.001431
P433
P478
P50
P577
P698
P932