rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
|
29029362 |
2018 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
|
28501893 |
2017 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
|
27147698 |
2016 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
|
27147698 |
2016 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
|
27527004 |
2016 |
rs1565930588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
|
26976520 |
2016 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
rs142908436
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
rs368970223
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
|
25891276 |
2015 |
rs142336618
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
rs1057518925
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121908110
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553264624
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553265369
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553265433
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553265436
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553265761
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553521119
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|