Variant: rs104894299 

    present in Gene: RAPSN
    present in Chromosome: 11
    Position on Chromosome: 47448079
    Alleles of this Variant: G/T

rs104894299 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 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 14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

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

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

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

PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

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

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

PMID 17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

PMID 25194721 2014 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

PMID 15286164 2004 The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder.

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

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 17190963 2006 Unusual features in a boy with the rapsyn N88K mutation.

rs104894299 in RAPSN gene and MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY PMID 14659409 2004 Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

PMID 17190963 2006 Unusual features in a boy with the rapsyn N88K mutation.

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

PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

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

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

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

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

PMID 19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.

PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

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

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

rs104894299 in RAPSN gene and Myasthenic Syndromes, Congenital PMID 12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.

PMID 14729848 2004 Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders.

PMID 12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.

PMID 15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

rs104894299 in RAPSN gene and Pena-Shokeir syndrome type I PMID 20157724 2010 Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes.

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

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

PMID 16945936 2006 Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

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

PMID 25194721 2014 Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

PMID 24319099 2014 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.