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- source_evidence_curated type ECO_0000205 NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_assertion wasGeneratedBy ECO_0000218 NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_assertion wasDerivedFrom uniprot-20150221 NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_assertion SIO_000772 22205389 NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_assertion evidence source_evidence_curated NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.
- NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_assertion description "[LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP48.RAbFfLf-Icr8IVYeLBN6T7EPUonh7ejrKD6W6xSwTtDig130_provenance.