Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G3938D
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RYR1

NM_000540.3:p.G3938D

Associated Papers

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Fusto A et al.

Acta Neuropathologica Communications, 2022

Frequency of Specific Genes in Different Types of Epilepsy.

Duzkale N et al.

Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

Biancalana V et al.

Acta Neuropathologica Communications, 2021

Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.

Kraeva N et al.

Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011

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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."