dgn-np:NP212548.RAxTcFMg3AlTYKUTZqTQJQnU3s0aXKHI5Lm3qJolvKd2c130_provenance {
dgn-np:NP212548.RAxTcFMg3AlTYKUTZqTQJQnU3s0aXKHI5Lm3qJolvKd2c130_assertion dcterms:description "[The following carrier frequencies were observed: β-thalassemia (β-thal), 4.56% (n = 293); Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T], 2.9% (n = 186); Hb D-Punjab [β121(GH4)Glu→Gln, GAA>CAA; HBB: c.364G>C], 0.78% (n = 50); Hb Lepore (δβ hybrid gene) with an undetermined molecular genotype, 0.17% (n = 11); Hb E [β26(B8)Glu→Lys, GAG>AAG; HBB: c.79G>A], 0.03% (n = 2); and hereditary persistence of fetal Hb (HPFH), 0.016% (n = 1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence dgn-void:source_evidence_literature ;
sio:SIO_000772 miriam-pubmed:23647352 ;
prov:wasDerivedFrom dgn-void:befree-20140225 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^
xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212 ;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}