|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
|
30564623 |
2018 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.
|
27363342 |
2017 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
|
28104817 |
2017 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
|
27290639 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Respiratory and cardiac function in japanese patients with dysferlinopathy.
|
26088049 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Pathogenic mutation R959W alters recognition dynamics of dysferlin inner DysF domain.
|
26806107 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Toward an objective measure of functional disability in dysferlinopathy.
|
25900324 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Dysferlin mutations and mitochondrial dysfunction.
|
27666772 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Dysferlin mutations and mitochondrial dysfunction.
|
27666772 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Respiratory and cardiac function in japanese patients with dysferlinopathy.
|
26088049 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
|
27647186 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
|
26060040 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
|
27229680 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
|
27647186 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.
|
26000923 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
GeneticVariation |
CLINVAR |
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.
|
27641898 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
|
25591676 |
2015 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
|
27066573 |
2015 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
|
1.000 |
CausalMutation |
CLINVAR |
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.
|
26579332 |
2015 |