|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
|
29057560 |
2018 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.
|
28416588 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
|
27813223 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Titin-truncating variants affect heart function in disease cohorts and the general population.
|
27869827 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene.
|
27868403 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A 'second truncation' in TTN causes early onset recessive muscular dystrophy.
|
28716623 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.
|
28611029 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
|
28045975 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
|
28877744 |
2017 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
|
27353043 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.
|
26735901 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Relevance of truncating titin mutations in dilated cardiomyopathy.
|
26777568 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.
|
26899768 |
2016 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of Titin Truncating Variants in General Population.
|
26701604 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
|
25589632 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Biophysical characterization of naturally occurring titin M10 mutations.
|
25739468 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
|
26315439 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure.
|
25500009 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Atlas of the clinical genetics of human dilated cardiomyopathy.
|
25163546 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.
|
26084686 |
2015 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain.
|
24636144 |
2014 |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Atypical phenotypes in titinopathies explained by second titin mutations.
|
24395473 |
2014 |