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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8645254
Species: Homo sapiens
RGD Object: Variant
Symbol: CV104662
Name: NM_001034853.2(RPGR):c.28+5G>A
Acc ID: DOID:9562
Term: primary ciliary dyskinesia
Definition: A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia "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)
CV104662 IAGP 8554872ClinVarClinVar Annotator: match by term: Primary ciliary dyskinesiaPMID:10480356 PMID:17576681 PMID:28492532 PMID:30924848 PMID:31213501 PMID:9536098
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