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- NCIT_C113507 IAO_0000115 "A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia." @default.
- NCIT_C113507 NCIT_A13 NCIT_C18585 @default.
- NCIT_C113507 NCIT_NHC0 "C113507" @default.
- NCIT_C113507 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C113507 NCIT_P107 "MLL Partial Tandem Duplication" @default.
- NCIT_C113507 NCIT_P108 "KMT2A Partial Tandem Duplication" @default.
- NCIT_C113507 NCIT_P171 "15774615" @default.
- NCIT_C113507 NCIT_P171 "8275471" @default.
- NCIT_C113507 NCIT_P207 "C3829001" @default.
- NCIT_C113507 NCIT_P322 "CTRP" @default.
- NCIT_C113507 NCIT_R173 NCIT_C12219 @default.
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- NCIT_C113507 NCIT_R173 NCIT_C14134 @default.
- NCIT_C113507 NCIT_R173 NCIT_C21599 @default.
- NCIT_C113507 NCIT_R177 NCIT_C16612 @default.
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- NCIT_C113507 NCIT_R177 NCIT_C21281 @default.
- NCIT_C113507 NCIT_R177 NCIT_C25870 @default.
- NCIT_C113507 NCIT_R177 NCIT_C26110 @default.
- NCIT_C113507 normalizedInformationContent "100" @default.
- NCIT_C113507 referenceCount "1" @default.
- NCIT_C113507 hasExactSynonym "KMT2A Partial Tandem Duplication" @default.
- NCIT_C113507 hasExactSynonym "MLL Partial Tandem Duplication" @default.
- NCIT_C113507 hasExactSynonym "MLL-PTD" @default.
- NCIT_C113507 hasExactSynonym "Partial Tandem Duplication of MLL" @default.
- NCIT_C113507 inSubset NCIT_C116977 @default.
- NCIT_C113507 inSubset NCIT_C142799 @default.
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- NCIT_C113507 type Class @default.
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- NCIT_C113507 label "KMT2A Partial Tandem Duplication" @default.
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