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- NCIT_C199472 IAO_0000115 "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.
- NCIT_C199472 NCIT_NHC0 "C199472" @default.
- NCIT_C199472 NCIT_P100 "118425" @default.
- NCIT_C199472 NCIT_P102 "Z25884" @default.
- NCIT_C199472 NCIT_P106 "Gene or Genome" @default.
- NCIT_C199472 NCIT_P108 "CLCN1 wt Allele" @default.
- NCIT_C199472 NCIT_P321 "1180" @default.
- NCIT_C199472 NCIT_P98 "Variations in the CLCN1 gene may also be associated with idiopathic generalized epilepsy. (OMIM)" @default.
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- NCIT_C199472 normalizedInformationContent "100" @default.
- NCIT_C199472 referenceCount "1" @default.
- NCIT_C199472 hasExactSynonym "CLC1" @default.
- NCIT_C199472 hasExactSynonym "CLCN1 wt Allele" @default.
- NCIT_C199472 hasExactSynonym "Chloride Channel 1, Skeletal Muscle Gene" @default.
- NCIT_C199472 hasExactSynonym "Chloride Channel Protein, Skeletal Muscle Gene" @default.
- NCIT_C199472 hasExactSynonym "Chloride Channel, Muscle Gene" @default.
- NCIT_C199472 hasExactSynonym "Chloride Channel, Voltage-Sensitive 1 Gene" @default.
- NCIT_C199472 hasExactSynonym "Chloride Voltage-Gated Channel 1 wt Allele" @default.
- NCIT_C199472 type Class @default.
- NCIT_C199472 isDefinedBy ncit.owl @default.
- NCIT_C199472 label "CLCN1 wt Allele" @default.
- NCIT_C199472 subClassOf B90f6e78b394bc394160974c1e93fc1a9 @default.
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