Varaico: Literature-Extracted Genetic Variants

Gene:NDRG1
Variant:p.Q185*
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NDRG1

NM_006096.4:p.Q185*

Associated Papers

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

A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.

Pravinbabu P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.

Chen B et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018

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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."