Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion> ?p ?o ?g. }
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- NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_assertion type Assertion NP895111.RAeYe7g9IlF4UB_BCUp9MvybQnGf1Qoui2IDka_a9KJcg130_head.
- 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.