Varaico: Literature-Extracted Genetic Variants

Gene:SERAC1
Variant:p.I449_S450insFs
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SERAC1

NM_032861.4:p.I449_S450insFs

Associated Papers

Adult-Onset Dystonia-Parkinsonism: Do Not Forget SERAC1.

Scacciatella G et al.

Movement Disorders Clinical Practice, 2025

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

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.

Zamani M et al.

Basic and Clinical Neuroscience, 0

Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.

Roesch S et al.

Molecular Genetics and Metabolism, 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."