Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion> ?p ?o ?g. }
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- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion type Assertion NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_head.
- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion description "[Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare autosomal recessive disease characterized by disproportionate shortening of skeletal elements, predominantly affecting the middle segments (forearms and forelegs) and distal segments (hands and feet) of appendicular skeleton.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_provenance.
- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion evidence source_evidence_literature NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_provenance.
- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion SIO_000772 26349192 NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_provenance.
- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion wasDerivedFrom befree-2016 NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_provenance.
- NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_assertion wasGeneratedBy ECO_0000203 NP1293804.RAt2Kan8S5lOBvGHdbMb6BaYqlFH9lZgQrN6uSuLYV3io130_provenance.