rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
|
28144995 |
2017 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases.
|
25965061 |
2015 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.
|
23728742 |
2013 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.
|
23948568 |
2013 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
|
23643870 |
2013 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
|
22176143 |
2011 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
|
20870250 |
2010 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.
|
20178975 |
2010 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation.
|
18952241 |
2009 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
|
18832141 |
2008 |
rs121909113
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
|
15122254 |
2004 |
rs121909113
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|