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- Bbb5caa1bc935029a1b95e70e1b6843c5 NCIT_P378 "NCI" @default.
- Bbb5caa1bc935029a1b95e70e1b6843c5 type Axiom @default.
- Bbb5caa1bc935029a1b95e70e1b6843c5 annotatedProperty IAO_0000115 @default.
- Bbb5caa1bc935029a1b95e70e1b6843c5 annotatedSource NCIT_C115114 @default.
- Bbb5caa1bc935029a1b95e70e1b6843c5 annotatedTarget "Human CRYAB wild-type allele is located within 11q22.3-q23.1 and is approximately 15 kb in length. This allele, which encodes alpha-crystallin B chain protein, plays a role in maintaining the structure of the lens. Mutation of the gene is associated with myofibrillar myopathy type 2, dilated cardiomyopathy type 1II; cataract 16 and alpha-B crystallin-related, fatal infantile hypertrophy myofibrillar myopathy." @default.