Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion> ?p ?o ?g. }
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- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion type Assertion NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_head.
- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion wasGeneratedBy ECO_0000203 NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_provenance.
- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion wasDerivedFrom befree-20150227 NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_provenance.
- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion SIO_000772 15383666 NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_provenance.
- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion evidence source_evidence_literature NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_provenance.
- NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_assertion description "[Mutations in the hPOMT1 gene are responsible for Walker-Warburg syndrome (WWS), a severe recessive congenital muscular dystrophy associated with defects in neuronal migration that produce complex brain and eye abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP831452.RArrXgOnD8LZyRFPG-CRpHV-yRnD3TkEymbI0dazor9JM130_provenance.