Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion> ?p ?o ?g. }
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- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion type Assertion NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_head.
- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion description "[These data provide the first evidence that the ER-retention of mutant FKRP may play a role in the pathogenesis of CMD and potentially explain why the allelic disorder LGMD2I is milder, because the mutated protein is able to reach the Golgi apparatus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_provenance.
- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion evidence source_evidence_literature NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_provenance.
- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion SIO_000772 15574464 NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_provenance.
- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion wasDerivedFrom befree-20150227 NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_provenance.
- NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_assertion wasGeneratedBy ECO_0000203 NP942766.RAncGgW0_FiPDm5yDT_cFkrVO8D2Kuc7WqAaUaXBdcTfo130_provenance.