dgn-np:NP626264.RA1RzcMD3HDxFl_oTwD2F5H4BYQN0pXsJT7kuU1K0ZaYs130_provenance {
dgn-np:NP626264.RA1RzcMD3HDxFl_oTwD2F5H4BYQN0pXsJT7kuU1K0ZaYs130_assertion dcterms:description "[Among all the autosomal recessive rare bleeding disorders, which include afibrinogenaemia, factor (F) II, FV, FV + VIII, FVII, FX, FXI, FXIII, the combined deficiency of coagulation FV and FVIII (F5F8D or FV + FVIII) is exceptional because it is due to mutations in genes encoding proteins involved in the FV and FVIII intracellular transport (LMAN1 and MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors.]. 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:19141160 ;
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 .
}