Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion> ?p ?o ?g. }
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- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion type Assertion NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_head.
- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_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." NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_provenance.
- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion evidence source_evidence_literature NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_provenance.
- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion SIO_000772 15578582 NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_provenance.
- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion wasDerivedFrom befree-2016 NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_provenance.
- NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_assertion wasGeneratedBy ECO_0000203 NP471114.RA4MUOCSCArW5xwhgZxFZ2svOxW4DPmP9HjlXmGjRRw-M130_provenance.