Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
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Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian DescendantsMultidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.Living laboratory: whole-genome sequencing as a learning healthcare enterprise.Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic CardiomyopathyReassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.Genetics of hypertrophic cardiomyopathy: advances and pitfalls in molecular diagnosis and therapy.The genetic basis of hypertrophic cardiomyopathy in cats and humans.Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Calcium Signaling and Cardiac Arrhythmias.Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.Green Tea Catechin Normalizes the Enhanced Ca2+ Sensitivity of Myofilaments Regulated by a Hypertrophic Cardiomyopathy-Associated Mutation in Human Cardiac Troponin I (K206I)Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
P2860
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P2860
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Distinguishing hypertrophic ca ...... from background genetic noise.
@en
type
label
Distinguishing hypertrophic ca ...... from background genetic noise.
@en
prefLabel
Distinguishing hypertrophic ca ...... from background genetic noise.
@en
P2093
P2860
P1476
Distinguishing hypertrophic ca ...... from background genetic noise
@en
P2093
J Martijn Bos
Jamie D Kapplinger
Michael J Ackerman
Thomas E Callis
P2860
P2888
P304
P356
10.1007/S12265-014-9542-Z
P407
P577
2014-02-08T00:00:00Z