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GENE - TERM ANNOTATION REPORT

RGD ID: 1309109
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ercc2
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Acc ID: DOID:9003485
Term: Coffin-Siris Syndrome 12
Definition: A neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Caused by heterozygous mutation in the BICRA gene on chromosome 19q13. (OMIM)
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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