Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. | 21305573 | 2011 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. | 20157724 | 2010 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. | 19620612 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations. | 16945936 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Unusual features in a boy with the rapsyn N88K mutation. | 17190963 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. | 15328566 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. | 15482960 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. | 14659409 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine. | 15036330 | 2004 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. | 12807980 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. | 12796535 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Identification of pathogenic mutations in the human rapsyn gene. | 12730725 | 2003 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. | 11791205 | 2002 |