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- NCIT_C75397 IAO_0000115 "Human SHANK3 wild-type allele is located in the vicinity of 22q13.3 and is approximately 59 kb in length. This allele, which encodes SH3 and multiple ankyrin repeat domains protein 3, may play a role in neuronal function. Mutations in this gene are associated with 22q telomere deletion syndrome." @default.
- NCIT_C75397 NCIT_NHC0 "C75397" @default.
- NCIT_C75397 NCIT_P100 "606230" @default.
- NCIT_C75397 NCIT_P102 "AB051437" @default.
- NCIT_C75397 NCIT_P102 "NM_001080420" @default.
- NCIT_C75397 NCIT_P106 "Gene or Genome" @default.
- NCIT_C75397 NCIT_P108 "SHANK3 wt Allele" @default.
- NCIT_C75397 NCIT_P207 "C2699244" @default.
- NCIT_C75397 NCIT_P321 "85358" @default.
- NCIT_C75397 NCIT_P366 "SHANK3_wt_Allele" @default.
- NCIT_C75397 NCIT_P98 "Because the SHANK3 gene encodes a structural protein of the postsynaptic density, the analysis supported haploinsufficiency of this gene as a major causative factor in the neurologic symptoms of 22q13 deletion syndrome." @default.
- NCIT_C75397 NCIT_R130 NCIT_C17132 @default.
- NCIT_C75397 NCIT_R130 NCIT_C20633 @default.
- NCIT_C75397 NCIT_R130 NCIT_C91681 @default.
- NCIT_C75397 NCIT_R37 NCIT_C17133 @default.
- NCIT_C75397 NCIT_R37 NCIT_C17828 @default.
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- NCIT_C75397 NCIT_R40 NCIT_C13377 @default.
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- NCIT_C75397 NCIT_R40 NCIT_C14135 @default.
- NCIT_C75397 NCIT_R40 NCIT_C32221 @default.
- NCIT_C75397 NCIT_R40 NCIT_C34070 @default.
- NCIT_C75397 NCIT_R41 NCIT_C14182 @default.
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- NCIT_C75397 NCIT_R41 NCIT_C14234 @default.
- NCIT_C75397 NCIT_R41 NCIT_C14250 @default.
- NCIT_C75397 NCIT_R41 NCIT_C14262 @default.
- NCIT_C75397 NCIT_R41 NCIT_C14282 @default.
- NCIT_C75397 NCIT_R41 NCIT_C25796 @default.
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- NCIT_C75397 normalizedInformationContent "100" @default.
- NCIT_C75397 referenceCount "1" @default.
- NCIT_C75397 hasExactSynonym "DEL22q13.3" @default.
- NCIT_C75397 hasExactSynonym "KIAA1650" @default.
- NCIT_C75397 hasExactSynonym "PROSAP2" @default.
- NCIT_C75397 hasExactSynonym "PSAP2" @default.
- NCIT_C75397 hasExactSynonym "SCZD15" @default.
- NCIT_C75397 hasExactSynonym "SH3 and Multiple Ankyrin Repeat Domains 3 wt Allele" @default.
- NCIT_C75397 hasExactSynonym "SHANK3 wt Allele" @default.
- NCIT_C75397 hasExactSynonym "SPANK-2" @default.
- NCIT_C75397 type Class @default.
- NCIT_C75397 isDefinedBy ncit.owl @default.
- NCIT_C75397 label "SHANK3 wt Allele" @default.
- NCIT_C75397 subClassOf NCIT_C16612 @default.
- NCIT_C75397 subClassOf NCIT_C20921 @default.
- NCIT_C75397 subClassOf NCIT_C75396 @default.
- NCIT_C75397 subClassOf NCIT_C75397 @default.
- NCIT_C75397 equivalentClass B94ae00c37c5b4594b4d0e9a9c8c951a4 @default.
- NCIT_C75397 equivalentClass Bfd65b9cc1822386ed54e464c33edf026 @default.