Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion> ?p ?o ?g. }
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- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion type Assertion NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_head.
- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion description "[Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_provenance.
- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion evidence source_evidence_literature NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_provenance.
- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion SIO_000772 21893389 NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_provenance.
- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion wasDerivedFrom befree-2016 NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_provenance.
- NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_assertion wasGeneratedBy ECO_0000203 NP921549.RAuv8J0H0Z8ToLmAtSA87NV1dhQ_HL7U4syJq_TOt2dKA130_provenance.