Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.G535V
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DHTKD1

NM_018706.7:p.G535V

Associated Papers

High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.

Başdemirci M et al.

Molecular Syndromology, 2025

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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."