Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_assertion description "[Compound heterozygous mutations in the B4GALT7 gene, resulting in aberrant glycosylation of the dermatan sulfate proteoglycan decorin, had been described in a single patient affected with the progeroid form of EDS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_assertion evidence source_evidence_literature NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_assertion SIO_000772 16583246 NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_assertion wasDerivedFrom befree-20140225 NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_assertion wasGeneratedBy ECO_0000203 NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.
- befree-20140225 importedOn "2014-02-25" NP685043.RAIAuxs2KSt2Z5bSNJ8sIxF_nDKWU5s1jRi9qtDeW7K-E130_provenance.