Varaico: Literature-Extracted Genetic Variants

Gene:NDRG1
Variant:p.K198_E199Splc
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NDRG1

NM_006096.4:p.K198_E199Splc

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

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Atkinson D et al.

International Journal of Molecular Sciences, 2024

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

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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."