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- B393f72f95a0ba8b06c0c5c96a3ec72c9 NCIT_P378 "NCI" @default.
- B393f72f95a0ba8b06c0c5c96a3ec72c9 type Axiom @default.
- B393f72f95a0ba8b06c0c5c96a3ec72c9 annotatedProperty IAO_0000115 @default.
- B393f72f95a0ba8b06c0c5c96a3ec72c9 annotatedSource NCIT_C199472 @default.
- B393f72f95a0ba8b06c0c5c96a3ec72c9 annotatedTarget "Human CLCN1 wild-type allele is located in the vicinity of 7q34 and is approximately 36 kb in length. This allele, which encodes chloride channel protein 1, is involved in voltage-dependent chloride transport in muscle cells. Mutation of the gene is associated with autosomal recessive myotonia congenita (Becker disease), autosomal dominant myotonia congenita (Thomsen disease) and a mild form of autosomal dominant myotonia, called myotonia levior." @default.