Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion> ?p ?o ?g. }
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- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion type Assertion NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_head.
- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion description "[We also identified 4 new PLP1 point mutations that cause both PMD and peripheral neuropathy, three of which truncate PLP1 expression within the PLP1-specific domain, but do not alter DM20.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_provenance.
- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion evidence source_evidence_literature NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_provenance.
- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion SIO_000772 12601703 NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_provenance.
- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion wasDerivedFrom befree-2016 NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_provenance.
- NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_assertion wasGeneratedBy ECO_0000203 NP384756.RAkgvfqRfqebgq_f-Qz8ONJGy8sjgwPGR3q-1Iw1VbxU0130_provenance.