Varaico: Literature-Extracted Genetic Variants

Gene:EZH1
Variant:p.D745N
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EZH1

NM_001991.5:p.D745N

Associated Papers

Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis (ST3GAL5) and calcium voltage-gated channels (CACNA1H) - insights through molecular dynamic simulations.

Abid R et al.

Journal of Biomolecular Structure & Dynamics, 2025

HIF activation causes synthetic lethality between the VHL tumor suppressor and the EZH1 histone methyltransferase.

Chakraborty AA et al.

Science Translational Medicine, 2017

Discovery of mutations for Mendelian disorders.

Alkuraya FS

Human Genetics, 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."