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- NCIT_C104886 IAO_0000115 "Human CHAT wild-type allele is located in the vicinity of 10q11.2 and is approximately 85 kb in length. This allele, which encodes choline O-acetyltransferase protein, plays a role in the synthesis of acetylcholine. Mutation of the gene is associated with congenital myasthenic syndrome with episodic apnea (familial infantile myasthenia gravis 2)." @default.
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- NCIT_C104886 NCIT_P102 "AF305907" @default.
- NCIT_C104886 NCIT_P106 "Gene or Genome" @default.
- NCIT_C104886 NCIT_P107 "CHAT wt Allele" @default.
- NCIT_C104886 NCIT_P108 "CHAT wt Allele" @default.
- NCIT_C104886 NCIT_P207 "C3541871" @default.
- NCIT_C104886 NCIT_P321 "1103" @default.
- NCIT_C104886 NCIT_P322 "CTRP" @default.
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- NCIT_C104886 normalizedInformationContent "100" @default.
- NCIT_C104886 referenceCount "1" @default.
- NCIT_C104886 hasExactSynonym "CHAT wt Allele" @default.
- NCIT_C104886 hasExactSynonym "CHOACTASE" @default.
- NCIT_C104886 hasExactSynonym "CMS1A" @default.
- NCIT_C104886 hasExactSynonym "CMS1A2" @default.
- NCIT_C104886 hasExactSynonym "Choline O-Acetyltransferase wt Allele" @default.
- NCIT_C104886 inSubset NCIT_C116977 @default.
- NCIT_C104886 inSubset NCIT_C142799 @default.
- NCIT_C104886 inSubset NCIT_C142800 @default.
- NCIT_C104886 type Class @default.
- NCIT_C104886 isDefinedBy ncit.owl @default.
- NCIT_C104886 label "CHAT wt Allele" @default.
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