Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion> ?p ?o ?g. }
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- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion type Assertion NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_head.
- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion description "[The present data add 19 novel mutations to the catalog of inactivating CASR mutations and illustrate a variety of biochemical phenotypes in patients with the molecular genetic diagnosis FHH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_provenance.
- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion evidence source_evidence_literature NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_provenance.
- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion SIO_000772 17698911 NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_provenance.
- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion wasDerivedFrom gad-20150221 NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_provenance.
- NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_assertion wasGeneratedBy ECO_0000203 NP150984.RAIQoRLbBV4VYqFaox8KtnwVQuHG0iOzxs159IpkMh1LQ130_provenance.