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- source_evidence_literature type ECO_0000212 NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_assertion description "[The naturally occurring human lipoprotein lipase S447X variant (LPLS447X) exemplifies a gain-of function mutation with significant benefits including decreased plasma triglycerides (TG), increased high-density lipoprotein (HDL) cholesterol, and reduced risk of coronary artery disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_assertion evidence source_evidence_literature NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_assertion SIO_000772 16002740 NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_assertion wasDerivedFrom befree-2016 NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_assertion wasGeneratedBy ECO_0000203 NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.
- befree-2016 importedOn "2016-02-19" NP502953.RAcoYwBCecPEmJm-Zu8-K9S9owcpsxHitRE6NR5ekCRiA130_provenance.