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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAK16

Variant:p.I54V

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MAK16

NM_032509.4:p.I54V

hg38:chr8:33488614 A>G

Associated Papers

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

Reed DJ et al.

Jaad Case Reports, 2025

40492103 (PubMed )

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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."