Varaico: Literature-Extracted Genetic Variants

Gene:STUB1
Variant:p.I141V
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STUB1

NM_005861.4:p.I141V

Associated Papers

Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.

Yang G et al.

Journal of Human Genetics, 2025

39548192 (PubMed )
Supplement: 10038_2024_1305_MOESM1_ESM.docx
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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."