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Homo sapiens peripheral myelin protein 22 kDa splicing variant 5 (PMP22) mRNA, complete cds, alternatively spliced

GenBank: KR259963.1

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Articles about the PMP22 gene

[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.

Reference sequence information

RefSeq alternative splicing
See 10 reference mRNA sequence splice variants for the PMP22 gene.

More about the PMP22 gene

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alt...
Also Known As: CIDP, CMT1A, CMT1E, DSS...

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Protein
Protein sequence from Nucleotide coding region
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DDX50 DExD-box helicase 50 [Homo sapiens]
DDX50 DExD-box helicase 50 [Homo sapiens]
Gene ID:79009

Gene
BioProject Links for Nucleotide (Select 1710708399) (1)
BioProject
BioSample links for Nucleotide (Select 1274284704) (1)
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A noval sp. of Paenibacillus with antimicrobial activity.
A noval sp. of Paenibacillus with antimicrobial activity.

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