Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion description "[Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion evidence source_evidence_curated NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion SIO_000772 24676022 NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion wasDerivedFrom ctd_human-20150221 NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion wasGeneratedBy ECO_0000218 NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_provenance.