rs757917335
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
|
28104817 |
2017 |
rs1057521141
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin mutations and mitochondrial dysfunction.
|
27666772 |
2016 |
rs1057521141
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
rs121908955
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
rs121908955
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.
|
27641898 |
2016 |
rs121908963
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The absence of dysferlin induces the expression of functional connexin-based hemichannels in human myotubes.
|
27229680 |
2016 |
rs201049092
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Respiratory and cardiac function in japanese patients with dysferlinopathy.
|
26088049 |
2016 |
rs202218890
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Replacement of arginine in position 959 by tryptophan has been frequently associated with both LGMD2B and MM, but the molecular mechanisms by which this mutation alters dysferlin function remain unknown.
|
26806107 |
2016 |
rs746243052
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
|
27647186 |
2016 |
rs757917335
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin Gene Mutation Spectrum in a Large Cohort of Chinese Patients with Dysferlinopathy.
|
27647186 |
2016 |
rs886043900
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
|
27602406 |
2016 |
rs150877497
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy.
|
25868377 |
2015 |
rs201049092
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
|
26404900 |
2015 |
rs377735262
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mycophenolate mofetil in the treatment of multiple sclerosis: a preliminary report.
|
25591678 |
2015 |
rs746243052
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
|
25591676 |
2015 |
rs757917335
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
rs150877497
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
|
24488599 |
2014 |
rs377735262
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Identification of splicing defects caused by mutations in the dysferlin gene.
|
25312915 |
2014 |
rs377735262
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected].
|
23519732 |
2013 |
rs121908963
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.
|
22297152 |
2012 |
rs121908963
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
|
23185377 |
2012 |
rs377735262
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.
|
22318734 |
2012 |
rs757917335
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.
|
23185377 |
2012 |
rs121908955
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
|
21522182 |
2011 |
rs121908963
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Ahnak1 abnormally localizes in muscular dystrophies and contributes to muscle vesicle release.
|
22057634 |
2011 |