Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion> ?p ?o ?g. }
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- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion type Assertion NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_head.
- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion description "[The Val102fs mutation of the myelin protein zero gene (MPZ) has been associated with Charcot-Marie-Tooth disease type 1B (CMT1B).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_provenance.
- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion evidence source_evidence_literature NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_provenance.
- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion SIO_000772 19906531 NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_provenance.
- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion wasDerivedFrom befree-20150227 NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_provenance.
- NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_assertion wasGeneratedBy ECO_0000203 NP568254.RAThfcQlqio_TqLK51LDTB72pBEEJmXREqM0gOkaR-42Q130_provenance.