Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_assertion description "[Compound heterozygous parkin mutations (EX 3_6 del and EX 5 del) caused EOPD in this family, but the A265G variant in the HS1BP3 gene, previously considered to be responsible for ET, was probably not pathogenically related to the ET in this family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_assertion evidence source_evidence_literature NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_assertion SIO_000772 17353387 NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_assertion wasDerivedFrom befree-2016 NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_assertion wasGeneratedBy ECO_0000203 NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.
- befree-2016 importedOn "2016-02-19" NP598509.RAzjDEl0JXWaZ0ACpLcJB4RUiKCte9qs_9o0Ni6zyZgXs130_provenance.