Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.R464*
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PRX

NM_181882.3:p.R464*

Associated Papers

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review.

Ma X et al.

Frontiers in Neurology, 2023

37470010 (PubMed )
Supplement: Table_1.docx

[Analysis of PRX gene variants in a child with Charcot-Marie-Tooth disease type 4F].

Yang Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

Dohrn MF et al.

Journal of Neurochemistry, 2017

Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

Sun B et al.

Journal of the Peripheral Nervous System : Jpns, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."