rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in dynamin 2 cause dominant centronuclear myopathy.
|
16227997 |
2005 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.
|
17825552 |
2007 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
|
17932957 |
2007 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation.
|
19122038 |
2009 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
|
19623537 |
2009 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset.
|
19932619 |
2010 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation.
|
19932620 |
2010 |
rs587783595
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
|
20227276 |
2010 |
rs587783595
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.
|
22096584 |
2011 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
|
22396310 |
2012 |
rs587783595
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Centronuclear and myotubular myopathies.
|
22617344 |
2012 |