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- NCIT_C201200 IAO_0000115 "Human FXN wild-type allele is located in the vicinity of 9q21.11 and is approximately 43 kb in length. This allele, which encodes frataxin, mitochondrial protein, plays a role in transport and storage of iron and the assembly of iron-sulfur clusters. Expansion of the intronic trinucleotide repeat GAA from 8-33 repeats to more than 90 repeats is associated with Friedreich ataxia." @default.
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- NCIT_C201200 NCIT_P100 "606829" @default.
- NCIT_C201200 NCIT_P102 "U43752" @default.
- NCIT_C201200 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201200 NCIT_P108 "FXN wt Allele" @default.
- NCIT_C201200 NCIT_P321 "2395" @default.
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- NCIT_C201200 hasExactSynonym "CyaY" @default.
- NCIT_C201200 hasExactSynonym "FA" @default.
- NCIT_C201200 hasExactSynonym "FARR" @default.
- NCIT_C201200 hasExactSynonym "FRDA" @default.
- NCIT_C201200 hasExactSynonym "FXN wt Allele" @default.
- NCIT_C201200 hasExactSynonym "Frataxin wt Allele" @default.
- NCIT_C201200 hasExactSynonym "Friedreich Ataxia Gene" @default.
- NCIT_C201200 hasExactSynonym "X25" @default.
- NCIT_C201200 type Class @default.
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- NCIT_C201200 label "FXN wt Allele" @default.
- NCIT_C201200 subClassOf NCIT_C16612 @default.
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