Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion> ?p ?o ?g. }
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- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion type Assertion NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_head.
- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion description "[16 patients from 11 unrelated families were studied with a phenotype of infantile ascending hereditary spastic paralysis (IAHSP); Alsin mutations were found in 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_provenance.
- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion evidence source_evidence_literature NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_provenance.
- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion SIO_000772 12601111 NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_provenance.
- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion wasDerivedFrom lhgdn-20090331 NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_provenance.
- NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_assertion wasGeneratedBy ECO_0000203 NP153560.RAwZGthti-GK2JWTpb8G4hjiWhX4KdHzV10UV4JTou278130_provenance.