Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion> ?p ?o ?g. }
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- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion type Assertion NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_head.
- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_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." NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_provenance.
- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion evidence source_evidence_literature NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_provenance.
- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion SIO_000772 7683951 NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_provenance.
- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion wasDerivedFrom befree-2016 NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_provenance.
- NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_assertion wasGeneratedBy ECO_0000203 NP1318064.RAO82WCxeWD9ha3kmQHh0IYDUJxzzvkOgPzjYI0LP4nQ4130_provenance.