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- source_evidence_literature type ECO_0000212 NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP1244681.RAGfn8i3IhLLDGvr_ZNXBaMu4NolLkEsSw326P5K9z6ik130_provenance.