Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. | 26310427 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. | 23768512 | 2013 |