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  • Human RFWD3 wild-type allele is located in the vicinity of 16q23.1 and is approximately 45 kb in length. This allele, which encodes E3 ubiquitin-protein ligase RFWD3 protein, plays a role in the modulation of the DNA damage checkpoint of the cell cycle. Biallelic mutations in the gene are associated with Fanconi anemia.
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