Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion> ?p ?o ?g. }
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- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion type Assertion NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_head.
- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion description "[Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_provenance.
- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion evidence source_evidence_literature NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_provenance.
- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion SIO_000772 19232556 NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_provenance.
- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion wasDerivedFrom befree-2016 NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_provenance.
- NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_assertion wasGeneratedBy ECO_0000203 NP721624.RAxxmmNcdxPDU8yZL1p7R1l8NEpmpyJtX3dTi0g2030TA130_provenance.