Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion> ?p ?o ?g. }
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- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion type Assertion NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_head.
- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion description "[Sil1 is a nucleotide exchange factor for the endoplasmic reticulum chaperone BiP, and mutations in this gene lead to Marinesco-Sj�gren syndrome (MSS), a debilitating autosomal recessive disease characterized by multisystem defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion evidence source_evidence_literature NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion SIO_000772 25473114 NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion wasDerivedFrom befree-2016 NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_assertion wasGeneratedBy ECO_0000203 NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.