Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.R18*
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MICU1

NM_001195518.2:p.R18*

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

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Neuronal loss of NCLX-dependent mitochondrial calcium efflux mediates age-associated cognitive decline.

Jadiya P et al.

Iscience, 2023

Molecular pathophysiology of human MICU1 deficiency.

Kohlschmidt N et al.

Neuropathology and Applied Neurobiology, 2021

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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."