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- NCIT_C198629 IAO_0000115 "Human CHRNE wild-type allele is located in the vicinity of 17p13.2 and is approximately 37 kb in length. This allele, which encodes acetylcholine receptor subunit epsilon protein, is involved in cholinergic receptor-dependent ion transport activity. Mutation of the gene is associated with the following congenital myasthenic syndrome subtypes: slow-channel type 4A, fast-channel type 4B and acetylcholine receptor deficiency type 4C." @default.
- NCIT_C198629 NCIT_NHC0 "C198629" @default.
- NCIT_C198629 NCIT_P100 "100725" @default.
- NCIT_C198629 NCIT_P102 "X66403" @default.
- NCIT_C198629 NCIT_P106 "Gene or Genome" @default.
- NCIT_C198629 NCIT_P108 "CHRNE wt Allele" @default.
- NCIT_C198629 NCIT_P321 "1145" @default.
- NCIT_C198629 NCIT_R130 NCIT_C17132 @default.
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- NCIT_C198629 NCIT_R37 NCIT_C21079 @default.
- NCIT_C198629 NCIT_R37 NCIT_C21124 @default.
- NCIT_C198629 NCIT_R37 NCIT_C21575 @default.
- NCIT_C198629 NCIT_R37 NCIT_C28498 @default.
- NCIT_C198629 NCIT_R37 NCIT_C30085 @default.
- NCIT_C198629 NCIT_R37 NCIT_C40515 @default.
- NCIT_C198629 NCIT_R37 NCIT_C40792 @default.
- NCIT_C198629 NCIT_R37 NCIT_C41480 @default.
- NCIT_C198629 NCIT_R40 NCIT_C12219 @default.
- NCIT_C198629 NCIT_R40 NCIT_C13282 @default.
- NCIT_C198629 NCIT_R40 NCIT_C13377 @default.
- NCIT_C198629 NCIT_R40 NCIT_C13432 @default.
- NCIT_C198629 NCIT_R40 NCIT_C13446 @default.
- NCIT_C198629 NCIT_R40 NCIT_C13877 @default.
- NCIT_C198629 NCIT_R40 NCIT_C14135 @default.
- NCIT_C198629 NCIT_R40 NCIT_C32221 @default.
- NCIT_C198629 NCIT_R40 NCIT_C34070 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14182 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14225 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14234 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14250 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14262 @default.
- NCIT_C198629 NCIT_R41 NCIT_C14282 @default.
- NCIT_C198629 NCIT_R41 NCIT_C25796 @default.
- NCIT_C198629 NCIT_R41 NCIT_C79740 @default.
- NCIT_C198629 normalizedInformationContent "100" @default.
- NCIT_C198629 referenceCount "1" @default.
- NCIT_C198629 hasExactSynonym "ACHRE" @default.
- NCIT_C198629 hasExactSynonym "Acetylcholine Receptor, Muscle, Epsilon Subunit Gene" @default.
- NCIT_C198629 hasExactSynonym "Acetylcholine Receptor, Nicotinic, Epsilon (Muscle) Gene" @default.
- NCIT_C198629 hasExactSynonym "AchR Epsilon Subunit Gene" @default.
- NCIT_C198629 hasExactSynonym "CHRNE wt Allele" @default.
- NCIT_C198629 hasExactSynonym "CMS1D" @default.
- NCIT_C198629 hasExactSynonym "CMS1E" @default.
- NCIT_C198629 hasExactSynonym "CMS2A" @default.
- NCIT_C198629 hasExactSynonym "CMS4A" @default.
- NCIT_C198629 hasExactSynonym "CMS4B" @default.
- NCIT_C198629 hasExactSynonym "CMS4C" @default.
- NCIT_C198629 hasExactSynonym "Cholinergic Receptor Nicotinic Epsilon Subunit wt Allele" @default.
- NCIT_C198629 hasExactSynonym "Cholinergic Receptor, Nicotinic Epsilon Gene" @default.
- NCIT_C198629 hasExactSynonym "Cholinergic Receptor, Nicotinic, Epsilon (Muscle) Gene" @default.
- NCIT_C198629 hasExactSynonym "Cholinergic Receptor, Nicotinic, Epsilon Gene" @default.
- NCIT_C198629 hasExactSynonym "Cholinergic Receptor, Nicotinic, Epsilon Polypeptide Gene" @default.
- NCIT_C198629 hasExactSynonym "FCCMS" @default.
- NCIT_C198629 hasExactSynonym "SCCMS" @default.
- NCIT_C198629 type Class @default.
- NCIT_C198629 isDefinedBy ncit.owl @default.
- NCIT_C198629 label "CHRNE wt Allele" @default.
- NCIT_C198629 subClassOf NCIT_C16612 @default.
- NCIT_C198629 subClassOf NCIT_C198628 @default.
- NCIT_C198629 subClassOf NCIT_C198629 @default.
- NCIT_C198629 subClassOf NCIT_C21295 @default.
- NCIT_C198629 subClassOf NCIT_C25869 @default.
- NCIT_C198629 subClassOf NCIT_C25993 @default.
- NCIT_C198629 subClassOf NCIT_C26039 @default.
- NCIT_C198629 subClassOf NCIT_C28533 @default.
- NCIT_C198629 equivalentClass B1cc8c0ae97c9f4ce33f38cac8d832a00 @default.
- NCIT_C198629 equivalentClass B85bf0399a27caebb836d60eb955ce801 @default.