Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion> ?p ?o ?g. }
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- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion type Assertion NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_head.
- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion description "[Mutations in lysosomal membrane protein ATP13A2 (PARK9) cause familial Kufor-Rakeb syndrome characterized by early-onset parkinsonism, pyramidal degeneration and dementia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_provenance.
- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion evidence source_evidence_literature NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_provenance.
- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion SIO_000772 22442086 NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_provenance.
- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion wasDerivedFrom befree-20150227 NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_provenance.
- NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_assertion wasGeneratedBy ECO_0000203 NP871449.RAesR1NoAKejQBLox40t9wLtTSRU4LTx9c2yY2v20k5yc130_provenance.