Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion> ?p ?o ?g. }
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- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion type Assertion NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_head.
- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion description "[The founder member of this gene family, MTM1, is mutated in X-linked myotubular myopathy, a severe congenital disorder that affects skeletal muscle, and codes for myotubularin, a specific phosphatidylinositol 3-phosphate [PI(3)P] phosphatase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_provenance.
- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion evidence source_evidence_literature NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_provenance.
- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion SIO_000772 12217958 NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_provenance.
- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion wasDerivedFrom befree-2016 NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_provenance.
- NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_assertion wasGeneratedBy ECO_0000203 NP367280.RAPlHlEtkhr0eSabrIbXRYQgha7iQwo3-lMgIBer2p13k130_provenance.