. . . . . . . "[We found markedly elevated thrombopoietin (TPO) serum levels in all affected individuals and identified a novel point mutation in the TPO gene, a G --> T transversion at position 516 of the TPO mRNA (G516T) that co-segregated with the HT phenotype in all affected family members.]. 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 . "2017-10-17T13:16:42+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .