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- NCIT_C201166 IAO_0000115 "Human FKRP wild-type allele is located in the vicinity of 19q13.32 and is approximately 32 kb in length. This allele, which encodes ribitol 5-phosphate transferase FKRP, is involved in the transfer of ribitol-phosphate certain glycoproteins. Mutations in the gene are associated with FKRP-related congenital muscular dystrophy, Walker-Warburg syndrome and limb-girdle muscular dystrophy type 2I." @default.
- NCIT_C201166 NCIT_NHC0 "C201166" @default.
- NCIT_C201166 NCIT_P100 "606596" @default.
- NCIT_C201166 NCIT_P102 "AJ314847" @default.
- NCIT_C201166 NCIT_P106 "Gene or Genome" @default.
- NCIT_C201166 NCIT_P108 "FKRP wt Allele" @default.
- NCIT_C201166 NCIT_P321 "79147" @default.
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- NCIT_C201166 referenceCount "1" @default.
- NCIT_C201166 hasExactSynonym "FKRP wt Allele" @default.
- NCIT_C201166 hasExactSynonym "FKTR" @default.
- NCIT_C201166 hasExactSynonym "Fukutin Related Protein wt Allele" @default.
- NCIT_C201166 hasExactSynonym "LGMD2I" @default.
- NCIT_C201166 hasExactSynonym "LGMDR9" @default.
- NCIT_C201166 hasExactSynonym "MDC1C" @default.
- NCIT_C201166 hasExactSynonym "MDDGA5" @default.
- NCIT_C201166 hasExactSynonym "MDDGB5" @default.
- NCIT_C201166 hasExactSynonym "MDDGC5" @default.
- NCIT_C201166 type Class @default.
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- NCIT_C201166 label "FKRP wt Allele" @default.
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