Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion> ?p ?o ?g. }
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- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion type Assertion NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_head.
- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_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." NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_provenance.
- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion evidence source_evidence_literature NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_provenance.
- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion SIO_000772 24556424 NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_provenance.
- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion wasDerivedFrom befree-2016 NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_provenance.
- NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_assertion wasGeneratedBy ECO_0000203 NP1156969.RAuHEtCb61Fl8kAmd0Een3LLf0jwsbN9aEdiTbNRksCtw130_provenance.