Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. | 23326386 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. | 19299310 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. | 11709191 | 2001 |