Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. | 28478914 | 2017 |
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|
G | 0.800 | CausalMutation | CLINVAR | Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. | 25770200 | 2015 |
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|
G | 0.800 | CausalMutation | CLINVAR | GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. | 26310427 | 2015 |
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|
G | 0.800 | CausalMutation | CLINVAR | Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. | 26133662 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. | 26310427 | 2015 |
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|
G | 0.800 | CausalMutation | CLINVAR | Expanding the phenotype of GMPPB mutations. | 25681410 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. | 23768512 | 2013 |
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|
G | 0.800 | CausalMutation | CLINVAR | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. | 23768512 | 2013 |