Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.S739delFs
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IGHMBP2

NM_002180.3:p.S739delFs

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

Xie Y et al.

European Journal of Neurology, 2021

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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."