Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_assertion description "[Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_assertion evidence source_evidence_curated NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_assertion SIO_000772 17546030 NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_assertion wasDerivedFrom uniprot-2016 NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_assertion wasGeneratedBy ECO_0000218 NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP5001.RAxqDMYRh_ymuiwFefg40-GJlgTzWq2IYjMQbT7dmy9UE130_provenance.