Figure 1. [Schematic representation of APC]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 1.

Figure 1.

Schematic representation of APC

APC consists of 15 exons and 2843 codons. Most germline variants are located in the 5' half of APC, particularly in codons 1061 and 1309. Germline variants in the central part of the gene are often associated with classic FAP. Germline variants between codons 1250 and 1464 are associated with profuse polyposis, whereas variants in the 5' or 3' ends cause attenuated FAP.

From: APC-Associated Polyposis Conditions

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Yen T, Stanich PP, Axell L, et al. APC-Associated Polyposis Conditions. 1998 Dec 18 [Updated 2022 May 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 1. [Schematic representation of APC].
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