Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1271323.RAVh_WoIS1W6PdnjOe-Brwv8_8qRoAOEHk-4gh9RMjRvA#assertion> ?p ?o ?g. }
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- assertion description "[Direct sequencing of the PLP gene and PLP mRNAs from the brain of the PMD patient revealed a G to T transition in exon V of the PLP gene, which leads to a glycine to cysteine substitution at residue 220.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 7683951 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.