Varaico: Literature-Extracted Genetic Variants

Gene:PKD1L3
Variant:p.S1319L
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PKD1L3

NM_181536.2:p.S1319L

Associated Papers

Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.

Reed DJ et al.

Jaad Case Reports, 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."