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GENE - TERM ANNOTATION REPORT

RGD ID: 14294554
Species: Sus scrofa
RGD Object: Gene
Symbol: LIPT1
Name: lipoyltransferase 1
Acc ID: DOID:9005603
Term: Muscle Hypotonia
Definition: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Definition Source(s): MESH:D009123
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)
LIPT1 ISOLIPT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: poor muscle tonePMID:25741868 PMID:27247813 PMID:28492532
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