Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion> ?p ?o ?g. }
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- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion type Assertion NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_head.
- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion description "[A total of eight loci for autosomal dominant hereditary spastic paraplegia (ADHSP) has been mapped to chromosome 14q, 2p, 15q, 8q, 10q, 12q, 19q, 2q, respectively, among which the SPG4 gene on chromosome 2p21-22 encoding spastin, an ATPase of the AAA family, accounts for 40-50% of all ADHSP families and is expressed in both adult and fetal tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_provenance.
- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion evidence source_evidence_literature NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_provenance.
- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion SIO_000772 12736085 NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_provenance.
- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion wasDerivedFrom befree-2016 NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_provenance.
- NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_assertion wasGeneratedBy ECO_0000203 NP393531.RAatPCs8p_ltv40WPjSmwlhZ72pQcvafxKnq0QJHQWdWg130_provenance.