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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEK

Variant:p.R119P

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PLEK

NM_002664.3:p.R119P

hg38:chr2:68380880 G>C

Associated Papers

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Sticchi E et al.

Diagnostics (basel, Switzerland), 2025

41515599 (PubMed )

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