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GENE - TERM ANNOTATION REPORT

RGD ID: 1351020
Species: Homo sapiens
RGD Object: Gene
Symbol: ADSS1
Name: adenylosuccinate synthase 1
Acc ID: HP:0002804
Term: Arthrogryposis multiplex congenita
Definition: Multiple congenital contractures in different body areas.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:23050160
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)
ADSS1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthrogryposis multiplex congenita

PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123
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