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- 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." provenance.
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- assertion SIO_000772 17698911 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.