Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.V451fs
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SERAC1

NM_032861.4:p.V451fs

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome.

Giron C et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018

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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."