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GENE - TERM ANNOTATION REPORT

RGD ID: 1308135
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Bscl2
Name: BSCL2 lipid droplet biogenesis associated, seipin
Acc ID: DOID:0050543
Term: Charcot-Marie-Tooth disease intermediate type
Definition: A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)
Definition Source(s): http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/16775371 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
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