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- NCIT_C131466 IAO_0000115 "A change in the amino acid sequence of Bloom syndrome protein where a frameshift mutation results in the replacement of a tyrosine residue at position 736 with 3 non-canonic amino acids followed by a stop codon." @default.
- NCIT_C131466 NCIT_NHC0 "C131466" @default.
- NCIT_C131466 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C131466 NCIT_P107 "BLM NP_000048.1:p.Y736fs*4" @default.
- NCIT_C131466 NCIT_P108 "BLM NP_000048.1:p.Y736fs*4" @default.
- NCIT_C131466 NCIT_P208 "CL514252" @default.
- NCIT_C131466 NCIT_P322 "CTRP" @default.
- NCIT_C131466 NCIT_P98 "This variation results in the insertion of leucine, aspartic acid, serine and arginine (LDSR) and a stop codon following the threonine at amino acid position 735 in Bloom syndrome protein. (Cell. 1995; 8:655-666 and Ref_Seq.)" @default.
- NCIT_C131466 NCIT_R177 NCIT_C16612 @default.
- NCIT_C131466 NCIT_R177 NCIT_C20805 @default.
- NCIT_C131466 NCIT_R177 NCIT_C21281 @default.
- NCIT_C131466 NCIT_R177 NCIT_C25804 @default.
- NCIT_C131466 NCIT_R177 NCIT_C26057 @default.
- NCIT_C131466 NCIT_R179 NCIT_C131464 @default.
- NCIT_C131466 NCIT_R179 NCIT_C17354 @default.
- NCIT_C131466 NCIT_R179 NCIT_C36391 @default.
- NCIT_C131466 NCIT_R179 NCIT_C3910 @default.
- NCIT_C131466 NCIT_R179 NCIT_C43287 @default.
- NCIT_C131466 NCIT_R179 NCIT_C45576 @default.
- NCIT_C131466 NCIT_R179 NCIT_C97926 @default.
- NCIT_C131466 NCIT_R179 NCIT_C97927 @default.
- NCIT_C131466 NCIT_R182 NCIT_C16517 @default.
- NCIT_C131466 NCIT_R182 NCIT_C16554 @default.
- NCIT_C131466 NCIT_R182 NCIT_C16701 @default.
- NCIT_C131466 NCIT_R182 NCIT_C17021 @default.
- NCIT_C131466 NCIT_R182 NCIT_C17980 @default.
- NCIT_C131466 NCIT_R182 NCIT_C20027 @default.
- NCIT_C131466 NCIT_R182 NCIT_C20423 @default.
- NCIT_C131466 NCIT_R182 NCIT_C20595 @default.
- NCIT_C131466 NCIT_R182 NCIT_C26548 @default.
- NCIT_C131466 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C131466 referenceCount "2" @default.
- NCIT_C131466 hasExactSynonym "BLM NP_000048.1:p.Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM NP_000048.1:p.Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM p.Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM p.Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "BLM(Ash) Protein" @default.
- NCIT_C131466 hasExactSynonym "Bloom Syndrome Protein Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "Bloom Syndrome Protein Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "DNA Helicase, RecQ-Like Type 2 Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "DNA Helicase, RecQ-Like Type 2 Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "NP_000048.1:p.Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "NP_000048.1:p.Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "RecQ Protein-Like 3 Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "RecQ Protein-Like 3 Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "RecQ2 Tyr736fs*4" @default.
- NCIT_C131466 hasExactSynonym "RecQ2 Y736fs*4" @default.
- NCIT_C131466 hasExactSynonym "blmAsh Protein" @default.
- NCIT_C131466 inSubset NCIT_C116977 @default.
- NCIT_C131466 inSubset NCIT_C142799 @default.
- NCIT_C131466 inSubset NCIT_C142800 @default.
- NCIT_C131466 type Class @default.
- NCIT_C131466 isDefinedBy ncit.owl @default.
- NCIT_C131466 label "BLM NP_000048.1:p.Y736fs*4" @default.
- NCIT_C131466 subClassOf B00cfd38a65085d0783532356d6768dd1 @default.
- NCIT_C131466 subClassOf B739ff1289c77a8f7f5e0b3ed12fdcea0 @default.
- NCIT_C131466 subClassOf NCIT_C131465 @default.
- NCIT_C131466 subClassOf NCIT_C131466 @default.
- NCIT_C131466 subClassOf NCIT_C3910 @default.
- NCIT_C131466 subClassOf NCIT_C97926 @default.
- NCIT_C131466 subClassOf NCIT_C97928 @default.