dgn-np:NP1271132.RACsySP9_BzPM4XEiC72VVCo8LH4wvJ6lTegIUiOm3rvw130_provenance {
dgn-np:NP1271132.RACsySP9_BzPM4XEiC72VVCo8LH4wvJ6lTegIUiOm3rvw130_assertion dcterms:description "[Seven patients (type 2 diabetes (n=3), gestational diabetes (n=1), microcytic anemia (n=2)) had four novel catalase exon mutations namely, c.106_107insC, p.G36Afs*5(n=3, Hungarian type G1), c.379C>T, p.R127Y (n=2, Hungarian type H1), c.390T>C, p.R129L, (n=1, Hungarian type H2) and c.431A>T, p.N143V (n=1, Hungarian type H3).]. 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:25772105 ;
prov:wasDerivedFrom dgn-void:befree-2016 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-2016 pav:importedOn "2016-02-19"^^
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 .
}