[We identified a novel nonsense mutation of seipin at codon 275 (R275X)/four congenital generalized lipodystrophy patients, three were homozygous for R275X/seipin mutation was found in any exon in one patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE