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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2AK2

Variant:p.G130R

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EIF2AK2

NM_001135651.3:p.G130R

hg38:chr2:37141554 C>G

Associated Papers

Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS.

Magrinelli F et al.

Movement Disorders Clinical Practice, 2022

35146068 (PubMed )

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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."