Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion> ?p ?o ?g. }
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- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion type Assertion NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_head.
- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_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." NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_provenance.
- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion evidence source_evidence_literature NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_provenance.
- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion SIO_000772 24556424 NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_provenance.
- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion wasDerivedFrom befree-20150227 NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_provenance.
- NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_assertion wasGeneratedBy ECO_0000203 NP847943.RAkJP2jhuWcRBx7w6ZZmgW7gf8-4f8nMQWFJMXW47k1JM130_provenance.