Varaico: Literature-Extracted Genetic Variants

Gene:DHTKD1
Variant:p.P790L
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DHTKD1

NM_018706.7:p.P790L

Associated Papers

Heterozygous DHTKD1 Variants in Two European Cohorts of Amyotrophic Lateral Sclerosis Patients.

Osmanovic A et al.

Genes, 2021

Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes.

Castro-Coyotl DM et al.

Boletin Medico Del Hospital Infantil De Mexico, 2021

A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.

Zhao ZH et al.

Molecular Medicine Reports, 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."