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- NCIT_C185842 IAO_0000115 "Human CPA6 wild-type allele is located in the vicinity of 8q13.2 and is approximately 325 kb in length. This allele, which encodes carboxypeptidase A6 protein, is involved in proteolysis of neuropeptides and peptide hormones. Mutation of the gene is associated with familial termporal lobe epilepsy 5 and familial febrile seizures 11. A translocation t(6;8)(q26;q13) involving this gene may transcribe the active form of the enzyme and may be associated with Duane retraction syndrome." @default.
- NCIT_C185842 NCIT_NHC0 "C185842" @default.
- NCIT_C185842 NCIT_P100 "609562" @default.
- NCIT_C185842 NCIT_P102 "AF221594" @default.
- NCIT_C185842 NCIT_P106 "Gene or Genome" @default.
- NCIT_C185842 NCIT_P108 "CPA6 wt Allele" @default.
- NCIT_C185842 NCIT_P208 "CL1778226" @default.
- NCIT_C185842 NCIT_P321 "57094" @default.
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- NCIT_C185842 NCIT_R41 NCIT_C79740 @default.
- NCIT_C185842 normalizedInformationContent "100" @default.
- NCIT_C185842 referenceCount "1" @default.
- NCIT_C185842 hasExactSynonym "CPA6 wt Allele" @default.
- NCIT_C185842 hasExactSynonym "CPAH" @default.
- NCIT_C185842 hasExactSynonym "Carboxypeptidase A6 wt Allele" @default.
- NCIT_C185842 hasExactSynonym "ETL5" @default.
- NCIT_C185842 hasExactSynonym "FEB11" @default.
- NCIT_C185842 type Class @default.
- NCIT_C185842 isDefinedBy ncit.owl @default.
- NCIT_C185842 label "CPA6 wt Allele" @default.
- NCIT_C185842 subClassOf NCIT_C16612 @default.
- NCIT_C185842 subClassOf NCIT_C185841 @default.
- NCIT_C185842 subClassOf NCIT_C185842 @default.
- NCIT_C185842 subClassOf NCIT_C21275 @default.
- NCIT_C185842 subClassOf NCIT_C21281 @default.
- NCIT_C185842 subClassOf NCIT_C25804 @default.
- NCIT_C185842 subClassOf NCIT_C26003 @default.