Variant: rs104894293 

    present in Gene: RAPSN
    present in Chromosome: 11
    Position on Chromosome: 47441675
    Alleles of this Variant: A/G

rs104894293 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

PMID 16931511 2006 Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.

PMID 14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

PMID 12929188 2003 Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.

PMID 15036330 2004 Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.

PMID 12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.

PMID 12730725 2003 Identification of pathogenic mutations in the human rapsyn gene.

PMID 11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.

PMID 15328566 2004 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.