Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion> ?p ?o ?g. }
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- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion type Assertion NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_head.
- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion description "[Myotubularin (hMTM1), the founder member, is mutated in myotubular myopathy, and a close homolog (hMTMR2) was recently found mutated in a recessive form of Charcot-Marie-Tooth neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_provenance.
- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion evidence source_evidence_literature NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_provenance.
- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion SIO_000772 11275328 NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_provenance.
- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion wasDerivedFrom befree-20150227 NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_provenance.
- NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_assertion wasGeneratedBy ECO_0000203 NP576461.RAKwUAqdv14PsgHpLNs_3qBO7shlp4kfh_ePMASLkF8BA130_provenance.