. . . . . . . . . . . . "[We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic neuropathy type 2, with acromutilations in upper and lower limbs, and autonomic dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:49:22+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .