Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion> ?p ?o ?g. }
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- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion type Assertion NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_head.
- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion description "[In 2003 we identified a family with familial hypocalciuric hypercalcemia (FHH) (heterozygous CASR gene mutation L173P) and a mutation in the pancreatic secretory trypsin inhibitor gene (SPINK1) (N34S).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_provenance.
- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion evidence source_evidence_literature NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_provenance.
- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion SIO_000772 16497624 NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_provenance.
- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion wasDerivedFrom befree-2016 NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_provenance.
- NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_assertion wasGeneratedBy ECO_0000203 NP537191.RAK1RTIEVk3eQXkZoS-HYVn7A0GKVXZ00JINf_ix6vj-M130_provenance.