Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion type Assertion NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_head.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_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." NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_provenance.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion evidence source_evidence_literature NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_provenance.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion SIO_000772 15572418 NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_provenance.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion wasDerivedFrom lhgdn-20090331 NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_provenance.
- NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_assertion wasGeneratedBy ECO_0000203 NP208042.RAXAz3BxNqDpAyAADnRDu1AQMb2nJlPB7nOWqz0NeV1QE130_provenance.