Varaico: Literature-Extracted Genetic Variants

Gene:EIF2AK2
Variant:p.N32S
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EIF2AK2

NM_001135651.3:p.N32S

Associated Papers

Possible EIF2AK2-Associated Stress-Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.

Waller SE et al.

Movement Disorders Clinical Practice, 2022

A Recurrent EIF2AK2 Missense Variant Causes Autosomal-Dominant Isolated Dystonia.

Musacchio T et al.

Annals of Neurology, 2021

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.

Macintosh J et al.

Child Neurology Open, 0

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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."