rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs142908436
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs142908436
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs397509424
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs397509424
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs761714818
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs761714818
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs771861177
|
GMPPB;RNF123
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs875989850
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
rs875989850
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
rs199922550
|
GMPPB;RNF123
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
rs202160208
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
T |
0.800 |
CausalMutation |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
G |
0.800 |
CausalMutation |
CLINVAR |
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
|
25770200 |
2015 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
G |
0.800 |
CausalMutation |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
G |
0.800 |
CausalMutation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
rs142336618
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
G |
0.800 |
CausalMutation |
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
rs142908436
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation |
UNIPROT |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
rs142908436
|
Entrez Id: |
29925 |
Gene Symbol: |
GMPPB |
GMPPB
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |