. . . . . . . . . . . . "[Analysis of a polymerase chain reaction-amplified fragment encoding the chick-specific repeat region revealed a single base mutation at position 4553 (G to T transversion) that converted the codon GAA for glutamate at amino acid 1513 to TAA, a stop codon, in nanomelic chondrocytes.]. 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 . "2016-05-13T12:51:52+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .