Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion> ?p ?o ?g. }
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- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion type Assertion NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_head.
- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion wasGeneratedBy ECO_0000203 NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_provenance.
- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion wasDerivedFrom lhgdn-20090331 NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_provenance.
- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion SIO_000772 12815654 NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_provenance.
- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion evidence source_evidence_literature NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_provenance.
- NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_assertion description "[We report a novel heterozygous 40 base pair deletion in exon 3 of the parkin gene that increases the susceptibility of carriers to develop parkinsonism/dystonia and manifests variability in regard to age of onset and phenotype in a single family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP200177.RADoeDUzCxRh4w7oHDihYrH3XI6l-_bVZEz71rAG7ELjg130_provenance.