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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MEFV

Variant:p.E392*

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MEFV

NM_000243.3:p.E392*

hg38:chr16:3249517 C>A

Associated Papers

VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.

Panigrahi B et al.

Movement Disorders Clinical Practice, 2025

40970427 (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."