Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion> ?p ?o ?g. }
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- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion type Assertion NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_head.
- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion description "[Schmid metaphyseal chondrodysplasia (Schmid MCD, MIM 156500) is caused by mutations in the COL10A1 gene and is clinically characterized by short stature, bowed legs, and a waddling gait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_provenance.
- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion evidence source_evidence_literature NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_provenance.
- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion SIO_000772 15578582 NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_provenance.
- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion wasDerivedFrom befree-20150227 NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_provenance.
- NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_assertion wasGeneratedBy ECO_0000203 NP320782.RAuqhKNSLt0vKhi9Cw4p4OE6e2Q0JjrVSEwYqD3unekD4130_provenance.