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Keywords: Frameshift variant
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Journal Articles
Seminoma Caused by PDE11A Frameshift Variant with Multiple Abnormalities: A Case Report
Available to Purchase
Journal:
Urologia Internationalis
Urol Int (2026) 110 (1): 98–104.
Published Online: 28 May 2025
.... Genetic analysis using exome sequencing detected a frameshift variant in the PDE11A gene, predicted by AlphaFold3 to significantly disrupt protein structure and function. The patient later underwent orchiectomy following recurrence confirmation. Conclusion: This report emphasizes the potential pathogenic...
