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- NCIT_C102892 IAO_0000115 "Human SOX10 wild-type allele is located in the vicinity of 22q13.1 and is approximately 17 kb in length. This allele, which encodes transcription factor SOX-10 protein, plays a role in transcriptional activation. Mutation of the gene is associated with Waardenburg syndrome types 2E and 4C and with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease." @default.
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- NCIT_C102892 NCIT_P106 "Gene or Genome" @default.
- NCIT_C102892 NCIT_P107 "SOX10 wt Allele" @default.
- NCIT_C102892 NCIT_P108 "SOX10 wt Allele" @default.
- NCIT_C102892 NCIT_P207 "C3539821" @default.
- NCIT_C102892 NCIT_P321 "6663" @default.
- NCIT_C102892 NCIT_P322 "CTRP" @default.
- NCIT_C102892 NCIT_P98 "Overexpression of the SOX10 gene may be associated with congenital nevi and melanoma. (Nature Cell Biology. 2012; 14:882-890.)" @default.
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- NCIT_C102892 hasExactSynonym "DOM" @default.
- NCIT_C102892 hasExactSynonym "Dominant Megacolon, Mouse, Human Homolog of Gene" @default.
- NCIT_C102892 hasExactSynonym "PCWH" @default.
- NCIT_C102892 hasExactSynonym "RP5-1039K5.9" @default.
- NCIT_C102892 hasExactSynonym "SOX10 wt Allele" @default.
- NCIT_C102892 hasExactSynonym "SRY (Sex Determining Region Y)-Box 10 wt Allele" @default.
- NCIT_C102892 hasExactSynonym "SRY-Related HMG-Box Gene 10" @default.
- NCIT_C102892 hasExactSynonym "WS2E" @default.
- NCIT_C102892 hasExactSynonym "WS4" @default.
- NCIT_C102892 hasExactSynonym "WS4C" @default.
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- NCIT_C102892 type Class @default.
- NCIT_C102892 isDefinedBy ncit.owl @default.
- NCIT_C102892 label "SOX10 wt Allele" @default.
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