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- source_evidence_literature type ECO_0000212 NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_assertion description "[The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_assertion evidence source_evidence_literature NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_assertion SIO_000772 23857908 NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_assertion wasDerivedFrom befree-20150227 NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_assertion wasGeneratedBy ECO_0000203 NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP953197.RAiNpZ_XSI69gfW9GqdwI3AO_Ngzrd-H87VXYmL28oPoI130_provenance.