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- Bbcf2a53b3294be43f6a769b2e392140b NCIT_P378 "NCI" @default.
- Bbcf2a53b3294be43f6a769b2e392140b type Axiom @default.
- Bbcf2a53b3294be43f6a769b2e392140b annotatedProperty IAO_0000115 @default.
- Bbcf2a53b3294be43f6a769b2e392140b annotatedSource NCIT_C105680 @default.
- Bbcf2a53b3294be43f6a769b2e392140b annotatedTarget "Human KRT5 wild-type allele is located in the vicinity of 12q13.13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 5 protein, plays a role in the formation of the epidermis. Mutation of the gene is associated with Dowling-Degos disease and several subtypes of epidermolysis bullosa simplex." @default.