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- NCIT_C90041 IAO_0000115 "Human DCLRE1C wild-type allele is located in the vicinity of 10p13 and is approximately 97 kb in length. This allele, which encodes protein artemis, plays a role in the mediation of both V(D)J recombination and DNA repair via nonhomologous end joining. Mutation of the gene is associated with severe combined immunodeficiency Athabaskan type and Omenn syndrome." @default.
- NCIT_C90041 NCIT_NHC0 "C90041" @default.
- NCIT_C90041 NCIT_P100 "605988" @default.
- NCIT_C90041 NCIT_P102 "BC022254" @default.
- NCIT_C90041 NCIT_P106 "Gene or Genome" @default.
- NCIT_C90041 NCIT_P107 "DCLRE1C wt Allele" @default.
- NCIT_C90041 NCIT_P108 "DCLRE1C wt Allele" @default.
- NCIT_C90041 NCIT_P207 "C2983312" @default.
- NCIT_C90041 NCIT_P321 "64421" @default.
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- NCIT_C90041 normalizedInformationContent "100" @default.
- NCIT_C90041 referenceCount "1" @default.
- NCIT_C90041 hasExactSynonym "A-SCID" @default.
- NCIT_C90041 hasExactSynonym "ARTEMIS" @default.
- NCIT_C90041 hasExactSynonym "ASCID" @default.
- NCIT_C90041 hasExactSynonym "DCLRE1C wt Allele" @default.
- NCIT_C90041 hasExactSynonym "DCLREC1C" @default.
- NCIT_C90041 hasExactSynonym "DNA Cross-Link Repair 1C (PSO2 Homolog, S. cerevisiae) Gene" @default.
- NCIT_C90041 hasExactSynonym "DNA Cross-Link Repair 1C wt Allele" @default.
- NCIT_C90041 hasExactSynonym "FLJ11360" @default.
- NCIT_C90041 hasExactSynonym "FLJ36438" @default.
- NCIT_C90041 hasExactSynonym "OTTHUMP00000019166" @default.
- NCIT_C90041 hasExactSynonym "OTTHUMP00000019167" @default.
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- NCIT_C90041 hasExactSynonym "OTTHUMP00000019170" @default.
- NCIT_C90041 hasExactSynonym "OTTHUMP00000019171" @default.
- NCIT_C90041 hasExactSynonym "OTTHUMP00000019172" @default.
- NCIT_C90041 hasExactSynonym "PSO2 Homolog Gene" @default.
- NCIT_C90041 hasExactSynonym "RS-SCID" @default.
- NCIT_C90041 hasExactSynonym "SCIDA" @default.
- NCIT_C90041 hasExactSynonym "SNM1C" @default.
- NCIT_C90041 hasExactSynonym "Severe Combined Immunodeficiency, Type a (Athabascan) Gene" @default.
- NCIT_C90041 hasExactSynonym "hSNM1C" @default.
- NCIT_C90041 inSubset NCIT_C116977 @default.
- NCIT_C90041 inSubset NCIT_C142799 @default.
- NCIT_C90041 inSubset NCIT_C142800 @default.
- NCIT_C90041 type Class @default.
- NCIT_C90041 isDefinedBy ncit.owl @default.
- NCIT_C90041 label "DCLRE1C wt Allele" @default.
- NCIT_C90041 subClassOf B3efa1d258dc1edf9a2068d189eabe026 @default.
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- NCIT_C90041 subClassOf NCIT_C16612 @default.
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- NCIT_C90041 subClassOf NCIT_C90040 @default.
- NCIT_C90041 subClassOf NCIT_C90041 @default.