Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion> ?p ?o ?g. }
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- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion type Assertion NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_head.
- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_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." NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_provenance.
- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion evidence source_evidence_literature NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_provenance.
- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion SIO_000772 12601111 NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_provenance.
- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion wasDerivedFrom lhgdn-20090331 NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_provenance.
- NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_assertion wasGeneratedBy ECO_0000203 NP198337.RAUsxADcbWizL9EnFd41Mc_7QLpfMcd5YzYK7-NdlSYHE130_provenance.