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- source_evidence_literature type ECO_0000212 NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_assertion description "[Thus, a defect in the phosphatidylinositol pathway leading to a decrease in synthesis of PIP(2), a molecule active in endocytosis of synaptic vesicle proteins, culminates in lethal congenital arthrogryposis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_assertion evidence source_evidence_literature NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_assertion SIO_000772 17701898 NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_assertion wasDerivedFrom befree-20150227 NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_assertion wasGeneratedBy ECO_0000203 NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP626097.RACw0iOr9YPj7sbVapY1PXR6KfnGEg0944Foelk11U4Lk130_provenance.