Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion> ?p ?o ?g. }
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- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion type Assertion NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_head.
- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion description "[We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_provenance.
- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion evidence source_evidence_literature NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_provenance.
- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion SIO_000772 21256749 NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_provenance.
- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion wasDerivedFrom befree-20150227 NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_provenance.
- NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_assertion wasGeneratedBy ECO_0000203 NP568323.RASLvTXeCY1i4cArSm3SUcabRWmCqBIC5fqbyhPvmfwyU130_provenance.