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- NCIT_C191809 IAO_0000115 "Human TBC1D7 wild-type allele is located in the vicinity of 6p24.1 and is approximately 62 kb in length. This allele, which encodes TBC1 domain family member 7 protein, is involved in GTPase-activating protein activity and the subsequent inhibition of the mTORC1-dependent signaling cascade. Mutation of the gene is associated with autosomal recessive macrocephaly/megalencephaly syndrome." @default.
- NCIT_C191809 NCIT_NHC0 "C191809" @default.
- NCIT_C191809 NCIT_P100 "612655" @default.
- NCIT_C191809 NCIT_P102 "AF151073" @default.
- NCIT_C191809 NCIT_P106 "Gene or Genome" @default.
- NCIT_C191809 NCIT_P108 "TBC1D7 wt Allele" @default.
- NCIT_C191809 NCIT_P208 "CL1905166" @default.
- NCIT_C191809 NCIT_P321 "51256" @default.
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- NCIT_C191809 NCIT_R41 NCIT_C14182 @default.
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- NCIT_C191809 NCIT_R41 NCIT_C14282 @default.
- NCIT_C191809 NCIT_R41 NCIT_C25796 @default.
- NCIT_C191809 NCIT_R41 NCIT_C79740 @default.
- NCIT_C191809 normalizedInformationContent "100" @default.
- NCIT_C191809 referenceCount "1" @default.
- NCIT_C191809 hasExactSynonym "FLJ32666" @default.
- NCIT_C191809 hasExactSynonym "HSPC239" @default.
- NCIT_C191809 hasExactSynonym "MGCPH" @default.
- NCIT_C191809 hasExactSynonym "PIG51" @default.
- NCIT_C191809 hasExactSynonym "TBC1 Domain Family Member 7 wt Allele" @default.
- NCIT_C191809 hasExactSynonym "TBC1 Domain Family, Member 7 Gene" @default.
- NCIT_C191809 hasExactSynonym "TBC1D7 wt Allele" @default.
- NCIT_C191809 hasExactSynonym "TBC7" @default.
- NCIT_C191809 hasExactSynonym "TS Complex Subunit 3 Gene" @default.
- NCIT_C191809 hasExactSynonym "dJ257A7.3" @default.
- NCIT_C191809 type Class @default.
- NCIT_C191809 isDefinedBy ncit.owl @default.
- NCIT_C191809 label "TBC1D7 wt Allele" @default.
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- NCIT_C191809 subClassOf NCIT_C191807 @default.
- NCIT_C191809 subClassOf NCIT_C191809 @default.
- NCIT_C191809 subClassOf NCIT_C20921 @default.