Varaico: Literature-Extracted Genetic Variants

Gene:NDRG1
Variant:p.H247delFs
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NDRG1

NM_006096.4:p.H247delFs

Associated Papers

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

Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.

Li LX et al.

Human Mutation, 2017

A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.

Piscosquito G et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Abstracts of the Fifth Annual Meeting of the Italian Association for the Study of the Peripheral Nervous System (ASNP).

Unknown Author

Journal of the Peripheral Nervous System : Jpns, 2015

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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."