Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion> ?p ?o ?g. }
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- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion type Assertion NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_head.
- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion wasGeneratedBy ECO_0000203 NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_provenance.
- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion wasDerivedFrom befree-2016 NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_provenance.
- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion SIO_000772 22549409 NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_provenance.
- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_assertion evidence source_evidence_literature NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_provenance.
- NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_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." NP978873.RAgA-W6F46Pu_fx8D8RueVkATwOosgpOhBpsq5wpFmC1k130_provenance.