Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion> ?p ?o ?g. }
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- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion type Assertion NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_head.
- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion wasGeneratedBy ECO_0000203 NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_provenance.
- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion wasDerivedFrom befree-2016 NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_provenance.
- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion SIO_000772 22549409 NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_provenance.
- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion evidence source_evidence_literature NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_provenance.
- NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_assertion description "[Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with microcephaly and mental retardation, to mild LGMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978876.RA4Y6dsnWC1Ua4VP1-4lzDANnZ28YKHfSj0EPg6lgmtvg130_provenance.