Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion> ?p ?o ?g. }
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- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion type Assertion NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_head.
- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion description "[Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_provenance.
- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion evidence source_evidence_literature NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_provenance.
- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion SIO_000772 19206178 NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_provenance.
- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion wasDerivedFrom befree-20140225 NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_provenance.
- NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_assertion wasGeneratedBy ECO_0000203 NP251028.RAoVG0IIOucQgnJ8Ixe3DnWDAJnvCYsiRhWuuyHH2U9sk130_provenance.