Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion> ?p ?o ?g. }
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- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion type Assertion NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_head.
- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion description "[SOD1 glycine93aspartate mutation, found in DNA extracted from the hair bulbs in two deceased obligate carriers, causes a slowly developing lower motor neuron disease with a reduced penetrance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_provenance.
- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion evidence source_evidence_literature NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_provenance.
- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion SIO_000772 18273717 NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_provenance.
- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion wasDerivedFrom lhgdn-20090331 NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_provenance.
- NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_assertion wasGeneratedBy ECO_0000203 NP234412.RA1BDLp1_88LwfPSu-0_4ITWki8A0xAe2tJARPgkMtraQ130_provenance.