Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion> ?p ?o ?g. }
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- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion type Assertion NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_head.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion description "[Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion evidence source_evidence_literature NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion SIO_000772 21964829 NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion wasDerivedFrom befree-2016 NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.
- NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_assertion wasGeneratedBy ECO_0000203 NP927885.RAAQuITfyhi7nKyF50fKhaTW4-6fUu5UnikbP_rCIywdU130_provenance.