Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. | 22326364 | 2012 |
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|
C | 0.700 | CausalMutation | CLINVAR | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. | 19620612 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Regulation of the rapsyn promoter by kaiso and delta-catenin. | 15282317 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | Distinct phenotypes of congenital acetylcholine receptor deficiency. | 15145336 | 2004 |
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|
C | 0.700 | CausalMutation | CLINVAR | E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. | 12651869 | 2003 |