. . . . . . . "[The diagnosis of PGK1 deficiency was made at 11�months of age on the basis of low PGK enzyme activity (36.7�IU/g Hb; normal, 264-326�IU/g Hb) and the identification through PGK1 gene sequencing of a novel missense mutation: c. 1180A>G at exon 10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:15:17+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .