Varaico: Literature-Extracted Genetic Variants

Gene:RBCK1
Variant:p.C371insFs
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RBCK1

NM_031229.4:p.C371insFs

Associated Papers

Successful heart transplantation in a patient with glycogen storage disease.

Yousefi-Koma H et al.

Oxford Medical Case Reports, 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

Phenotypic and genotyping spectrum of two Iranian cases with RBCK1-associated polyglucosan body myopathy.

Babaee M et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

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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."