. . . . . . . "[present study has revealed a heterozygous A1481D (c.4442 C > A) missense mutation in the SCN4A gene, which was identified in family members affected with cold-aggravated myotonia in a large German kindred]. 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 . "2017-10-17T13:16:04+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .