Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion> ?p ?o ?g. }
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- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion type Assertion NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_head.
- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion description "[Dejerine-Sottas disease (DSD), also called hereditary motor and sensory neuropathy type III (HMSNIII), is a severe, infantile-onset demyelinating polyneuropathy syndrome that may be associated with point mutations in either the PMP22 gene or the P0 gene and shares considerable clinical and pathological features with CMT1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_provenance.
- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion evidence source_evidence_literature NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_provenance.
- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion SIO_000772 10219749 NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_provenance.
- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion wasDerivedFrom befree-2016 NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_provenance.
- NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_assertion wasGeneratedBy ECO_0000203 NP251188.RA-_ptrqE7pfft-JE8nAKeNtb5JpliTZIfX9oY_MtaWMY130_provenance.