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- source_evidence_literature type ECO_0000212 NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_assertion description "[All patients with POMT1 and POMT2 mutations had evidence of either structural or functional central nervous system involvement including four patients with mental retardation and a LGMD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_assertion evidence source_evidence_literature NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_assertion SIO_000772 17878207 NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_assertion wasDerivedFrom befree-2016 NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_assertion wasGeneratedBy ECO_0000203 NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.
- befree-2016 importedOn "2016-02-19" NP630705.RA60BEao_l_FufxxG-z16lIPS7HDSzz6gwQ1xCjOKmWak130_provenance.