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GENE - TERM ANNOTATION REPORT

RGD ID: 1352855
Species: Homo sapiens
RGD Object: Gene
Symbol: RPGR
Name: retinitis pigmentosa GTPase regulator
Acc ID: HP:0007663
Term: Reduced visual acuity
Definition: null
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)
RPGR IAGP 8553198RGDDNA:frameshift mutation:exon:c.2919delA 
RPGR IAGP 8553227RGDDNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG 
RPGR IAGP 8553233RGDDNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 
RPGR IAGP 8699517HPO OMIM:300029
RPGR IAGP 8699517HPO OMIM:300834
RPGR IAGP 8699517HPO OMIM:304020
RPGR IAGP 8699517HPO ORPHA:49382
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