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GENE - TERM ANNOTATION REPORT

RGD ID: 1566009
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slx4
Name: SLX4 structure-specific endonuclease subunit
Acc ID: DOID:0111092
Term: Fanconi anemia complementation group P
Definition: A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)
Definition Source(s): PMID:21240275 "DO" "DO", PMID:21240277 "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)
Slx4 ISOSLX4 (Homo sapiens)7240710OMIM  
Slx4 ISOSLX4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Fanconi anemia complementation group PPMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26201965 PMID:26824983 PMID:27153395 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:29915322 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:31921681 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:33606809 PMID:36916425 PMID:9536098
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