. . . . . . . "[The patient presents with an early onset sporadic congenital myasthenic syndrome was found The mutation RAPSN N88K was found heterozygously to a large deletion of about 4.5 kb disrupting the RAPSN gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:53+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .