Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion> ?p ?o ?g. }
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- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion type Assertion NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_head.
- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion description "[Autosomal dominant hypocalcemia (ADH) caused by activating mutations of calcium-sensing receptor (CaSR) is characterized by hypocalcemia with inappropriately low concentration of PTH and relative hypercalciuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_provenance.
- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion evidence source_evidence_literature NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_provenance.
- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion SIO_000772 12733714 NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_provenance.
- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion wasDerivedFrom befree-2016 NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_provenance.
- NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_assertion wasGeneratedBy ECO_0000203 NP393402.RAHRNTtWvuqDrKJIQu9yK8MBkX-Rfq-qy9v63bFW5Na_k130_provenance.