Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion> ?p ?o ?g. }
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- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion type Assertion NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_head.
- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_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." NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_provenance.
- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion evidence source_evidence_literature NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_provenance.
- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion SIO_000772 12733714 NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_provenance.
- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion wasDerivedFrom befree-20140225 NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_provenance.
- NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_assertion wasGeneratedBy ECO_0000203 NP739480.RAZITQvXK-cyv721VoIZKzWGlmvUXkx8Zmp2DUbY_7RII130_provenance.