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- NCIT_C75901 IAO_0000115 "Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein 22, plays a role in the modulation of the structure of myelin. Mutation of the gene is associated with Charcot-Marie-Tooth disease Types IA and IE, Dejerine-Sottas syndrome, inflammatory demyelinating polyneuropathy and hereditary neuropathy with liability to pressure palsies." @default.
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- NCIT_C75901 hasExactSynonym "CMT1A" @default.
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- NCIT_C75901 hasExactSynonym "MGC20769" @default.
- NCIT_C75901 hasExactSynonym "PMP22 wt Allele" @default.
- NCIT_C75901 hasExactSynonym "Peripheral Myelin Protein 22 wt Allele" @default.
- NCIT_C75901 hasExactSynonym "Sp110" @default.
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