Prevalence of Titin Truncating Variants in General Population.
about
Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Titin-truncating variants affect heart function in disease cohorts and the general population.Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.Increasing Role of Titin Mutations in Neuromuscular Disorders.The prevalence of DICER1 pathogenic variation in population databases.Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.Genetics of hypertrophic cardiomyopathy: A review of current state.Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetranceHypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.Relevance of truncating titin mutations in dilated cardiomyopathy.Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
P2860
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P2860
Prevalence of Titin Truncating Variants in General Population.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
@yue
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
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2015年论文
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name
Prevalence of Titin Truncating Variants in General Population.
@ast
Prevalence of Titin Truncating Variants in General Population.
@en
type
label
Prevalence of Titin Truncating Variants in General Population.
@ast
Prevalence of Titin Truncating Variants in General Population.
@en
prefLabel
Prevalence of Titin Truncating Variants in General Population.
@ast
Prevalence of Titin Truncating Variants in General Population.
@en
P2860
P1433
P1476
Prevalence of Titin Truncating Variants in General Population.
@en
P2093
Juha W Koskenvuo
Tero-Pekka Alastalo
P2860
P304
P356
10.1371/JOURNAL.PONE.0145284
P407
P577
2015-12-23T00:00:00Z