Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- befree-2016 importedOn "2016-02-19" NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_assertion wasGeneratedBy ECO_0000203 NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_assertion wasDerivedFrom befree-2016 NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_assertion SIO_000772 16282375 NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_assertion evidence source_evidence_literature NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.
- NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_assertion description "[Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP522221.RAASVFm2zNBtuwlBjoeorV0hFWmyeiZrieyGcmZjJChZw130_provenance.