Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.P2488_A2492delFs
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RYR1

NM_000540.3:p.P2488_A2492delFs

Associated Papers

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.

Bouman K et al.

Journal of Neuromuscular Diseases, 2023

36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O et al.

Neuromuscular Disorders : Nmd, 2017

Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.

Bharucha-Goebel DX et al.

Neurology, 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."