Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.S409*
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MICU1

NM_001195518.2:p.S409*

Associated Papers

Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.

Beheshti P et al.

Clinical Genetics, 2026

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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."