Varaico: Literature-Extracted Genetic Variants

Gene:DGAT2
Variant:p.Y223H
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DGAT2

NM_032564.5:p.Y223H

Associated Papers

Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.

Lee AJ et al.

Journal of the Peripheral Nervous System : Jpns, 2025

Modeling of Charcot-Marie-Tooth disease in zebrafish.

Korzeniowska Née Wiweger M et al.

Frontiers in Molecular Neuroscience, 2025

Comprehensive Genetic Analysis of DGAT2 Mutations and Gene Expression Patterns in Human Cancers.

Graber M et al.

Biology, 2021

DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.

Hong YB et al.

Human Mutation, 2016

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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."