Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion> ?p ?o ?g. }
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- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion type Assertion NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_head.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion description "[We report two patients with partial laminin-?2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion evidence source_evidence_literature NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion SIO_000772 24534542 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion wasDerivedFrom befree-2016 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion wasGeneratedBy ECO_0000203 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.