Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_assertion description "[Point mutations in the gas3/PMP22 gene account for the dominant inherited peripheral neuropathies Charcot-Marie-Tooth type 1A disease (CMT1A) and Dejerine-Sottas syndrome (DSS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_assertion evidence source_evidence_literature NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_assertion SIO_000772 10982389 NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_assertion wasDerivedFrom befree-2016 NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_assertion wasGeneratedBy ECO_0000203 NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.
- befree-2016 importedOn "2016-02-19" NP294780.RAR2R_m5rc1WEXr2RK-kj2I0YKQbub1ZWUJQZe2sRlYR4130_provenance.