Varaico: Literature-Extracted Genetic Variants

Gene:WDR48
Variant:p.A295T
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WDR48

NM_020839.4:p.A295T

Associated Papers

Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.

Fortunato F et al.

Biomolecules, 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."