Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion description "[Within this group mutations in the protein O-mannosyltransferase genes (POMT1 and POMT2) are known to cause a spectrum of CMD disorders including the Walker-Warburg Syndrome with severe brain and ocular malformations, and the limb girdle muscular dystrophy with and without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion evidence source_evidence_literature NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion SIO_000772 24556424 NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion wasDerivedFrom befree-20150227 NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion wasGeneratedBy ECO_0000203 NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_provenance.