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GENE - TERM ANNOTATION REPORT

RGD ID: 1306981
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Frem1
Name: Fras1 related extracellular matrix 1
Acc ID: DOID:0111717
Term: isolated cryptophthalmia
Definition: A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16352480 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/29688405 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/31366340 "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)
Frem1 ISOFrem1 (Mus musculus)11554181RGDDNA:deletion, frame shift:cds, splice junction: 
Frem1 ISOFrem1 (Mus musculus)11554185RGDDNA:missense mutation:cds:c.1687A>T c (p.I563F)(mouse) 
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