Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion> ?p ?o ?g. }
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- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion type Assertion NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_head.
- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_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." NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_provenance.
- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion evidence source_evidence_literature NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_provenance.
- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion SIO_000772 15578582 NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_provenance.
- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion wasDerivedFrom befree-20140225 NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_provenance.
- NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_assertion wasGeneratedBy ECO_0000203 NP830550.RAyn3QK21a7ElOWI8mDhjGNePvd-coh8tlb8hEGKmEE8E130_provenance.