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- source_evidence_literature type ECO_0000212 NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_assertion description "[This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-year-old woman who showed elevated maternal serum alpha-fetoprotein and beta-HCG at a gestational age (GA) of 15.5 weeks.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_assertion evidence source_evidence_literature NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_assertion SIO_000772 17075795 NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_assertion wasDerivedFrom befree-20150227 NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_assertion wasGeneratedBy ECO_0000203 NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP311848.RA1Tej5tcpP2H4tmk-t77vEZm0F6KRQFE61isp51RWbGA130_provenance.