Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP160794.RAoLGTGPf8Kb1nodJGSl8it9RkxYk2RfK7IZjeVsZp8tQ#assertion> ?p ?o ?g. }
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- assertion description "[Direct sequence analysis of exon 4 of her CASR gene identified a heterozygous R227Q mutation in the extracellular domain of the receptor in familial (benign) hypocalciuric hypercalcemia or neonatal yperparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 15572418 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.