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- source_evidence_literature type ECO_0000212 NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_assertion description "[Multiple families, predominantly of German descent and with clinically variable presentation that included proximal myotonic myopathy (PROMM) and type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to segregate a (CCTG)(n) expansion mutation in intron 1 of ZNF9.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_assertion evidence source_evidence_literature NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_assertion SIO_000772 12970845 NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_assertion wasDerivedFrom befree-2016 NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_assertion wasGeneratedBy ECO_0000203 NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.
- befree-2016 importedOn "2016-02-19" NP408695.RAWrimaGfWHgVodIKTYQiGrgBIYo7AkfeSXW5ipjkH8m4130_provenance.