Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion> ?p ?o ?g. }
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- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion type Assertion NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_head.
- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion description "[Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-? signaling mediated through mutations in FBN1 or ADAMTSL2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_provenance.
- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion evidence source_evidence_literature NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_provenance.
- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion SIO_000772 24214363 NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_provenance.
- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion wasDerivedFrom befree-2016 NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_provenance.
- NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_assertion wasGeneratedBy ECO_0000203 NP1126826.RAG0G1H70oYfGDa2ONMRf7gv4XK0dT4inISRrqZefHozU130_provenance.