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- NCIT_C172118 IAO_0000115 "Human FBXL4 wild-type allele is located within 6q16.1-q16.2 and is approximately 79 kb in length. This allele, which encodes F-box/LRR-repeat protein 4, plays a role in the promotion of ubiquitination and the maintenance of mitochondrial DNA. Missense and nonsense mutations in the gene are associated with autosomal recessive mitochondrial DNA depletion syndrome 13." @default.
- NCIT_C172118 NCIT_NHC0 "C172118" @default.
- NCIT_C172118 NCIT_P100 "605654" @default.
- NCIT_C172118 NCIT_P102 "AF176699" @default.
- NCIT_C172118 NCIT_P106 "Gene or Genome" @default.
- NCIT_C172118 NCIT_P108 "FBXL4 wt Allele" @default.
- NCIT_C172118 NCIT_P208 "CL1406233" @default.
- NCIT_C172118 NCIT_P321 "26235" @default.
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- NCIT_C172118 normalizedInformationContent "100" @default.
- NCIT_C172118 referenceCount "1" @default.
- NCIT_C172118 hasExactSynonym "FBL4" @default.
- NCIT_C172118 hasExactSynonym "FBL5" @default.
- NCIT_C172118 hasExactSynonym "FBXL4 wt Allele" @default.
- NCIT_C172118 hasExactSynonym "MTDPS13" @default.
- NCIT_C172118 type Class @default.
- NCIT_C172118 isDefinedBy ncit.owl @default.
- NCIT_C172118 label "FBXL4 wt Allele" @default.
- NCIT_C172118 subClassOf NCIT_C16612 @default.
- NCIT_C172118 subClassOf NCIT_C172117 @default.
- NCIT_C172118 subClassOf NCIT_C172118 @default.
- NCIT_C172118 subClassOf NCIT_C20194 @default.