. . . . . . . . . . . . "[The observation of a distinct mutation that cosegregates with HYPP in two families and appears as a de novo mutation in a third establishes SCN4A as the HYPP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-01-25"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-05-13T12:41:57+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .