. . . . . . . . . . . . "[Here we describe a patient with juvenile hyaline fibromatosis confirmed by clinical and histopathologic findings, and genetic analysis, which revealed a novel homozygous splice site mutation IVS14+1G→T on exon 14 in anthrax toxin receptor 2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:34:06+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .