Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion> ?p ?o ?g. }
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- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion type Assertion NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_head.
- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion description "[In humans, mutations in the FALDH gene cause Sj�gren-Larsson syndrome (SLS), which is characterized by ichthyosis, mental retardation and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_provenance.
- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion evidence source_evidence_literature NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_provenance.
- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion SIO_000772 11306053 NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_provenance.
- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion wasDerivedFrom befree-20140225 NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_provenance.
- NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_assertion wasGeneratedBy ECO_0000203 NP170116.RA4lJj84llfPuN_siPc313814xBGqd0v7T5tI4XopeSfk130_provenance.