Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.G252G
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SORD

NM_003104.6:p.G252G

Associated Papers

An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.

Zhu B et al.

Human Molecular Genetics, 2026

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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."