Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion> ?p ?o ?g. }
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- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion type Assertion NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_head.
- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion description "[in the investigated Finnish pedigree with hereditary pancreatitis, the PRSS1 mutation R122H is linked with chronic disease; although the SPINK1 mutation (N34S) was also observed in two individuals, it was not linked with the disease ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_provenance.
- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion evidence source_evidence_literature NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_provenance.
- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion SIO_000772 17613931 NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_provenance.
- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion wasDerivedFrom lhgdn-20090331 NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_provenance.
- NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_assertion wasGeneratedBy ECO_0000203 NP148722.RA2nJHNmpkhWIReb6QAzAuSvg2HR0y1Bqz8PavR5VcLPs130_provenance.