" /> Fanconi anemia, complementation group r - CISMeF





Preferred Label : Fanconi anemia, complementation group r;

Symbol : FANCR;

CISMeF acronym : FANCR;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RAD51 recombinase gene (RAD51, 179617.0005);

Laboratory abnormalities : Chromosome instability; Increased chromosomal breakage and in response to DNA crosslinking agents; Defective DNA repair of interstrand crosslinks;

Prefixed ID : #617244;

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29/07/2025


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