Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant - Nucleotide

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[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene]. [Zhonghua Yi Xue Yi Chuan Xue Z...]
[Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene].
Yao L, Li M, Liu L, Fan Z, Jia Y, Wang J, Du F. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Apr 10; 41(4):443-449.
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel. [J Mol Diagn. 2024]
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel.
Lee JK, Kwon H, Park JH, Jang MA, Kim YG, Kim JW, Choi BO, Jang JH. J Mol Diagn. 2024 Apr; 26(4):304-309. Epub 2024 Feb 1.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. [Brain. 2023]
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1.
Pipis M, Won S, Poh R, Efthymiou S, Polke JM, Skorupinska M, Blake J, Rossor AM, Moran JJ, Munot P, et al. Brain. 2023 Oct 3; 146(10):4025-4032.

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the PMP22 gene.
RefSeq protein product
See the reference protein sequence for peripheral myelin protein 22 isoform 2 (NP_001317072.1).

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Protein sequence from Nucleotide coding region
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Nucleotide