Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion> ?p ?o ?g. }
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- NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_assertion type Assertion NP5742.RAeYvygJpJR_m64bqXc51WqU4HgpHaUnJ5t-_DIn4ZaCk130_head.
- 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.