Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.M87T
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CASQ1

NM_001231.5:p.M87T

Associated Papers

The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.

Marabelli C et al.

Biomolecules, 2023

Functional Calsequestrin-1 Is Expressed in the Heart and Its Deficiency Is Causally Related to Malignant Hyperthermia-Like Arrhythmia.

Sun Z et al.

Circulation, 2021

Calsequestrin. Structure, function, and evolution.

Wang Q et al.

Cell Calcium, 2020

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.

Barone V et al.

Human Mutation, 2017

Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.

Lewis KM et al.

The Journal of Biological Chemistry, 2015

The couplonopathies: A comparative approach to a class of diseases of skeletal and cardiac muscle.

Ríos E et al.

The Journal of General Physiology, 2015

CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population.

Kraeva N et al.

Anesthesiology, 2013

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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."