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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF2AK2

Variant:p.P31S

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EIF2AK2

NM_001135651.3:p.P31S

hg38:chr2:37147716 G>A

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )

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