Varaico: Literature-Extracted Genetic Variants

Gene:MICU1
Variant:p.R129*
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MICU1

NM_001195518.2:p.R129*

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

Dolichocephaly, Arachnodactyly, Diplopia, and Distal Myopathy - Novel Phenotype of MICU1 Variant c.553C>T.

Finsterer J et al.

Cureus, 2024

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

Jadiya P et al.

Iscience, 2023

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.

Sharova M et al.

Frontiers in Neurology, 2022

Identification of a novel MICU1 nonsense variant causes myopathy with extrapyramidal signs in an Iranian consanguineous family.

Bitarafan F et al.

Molecular and Cellular Pediatrics, 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."