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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PANK2

Variant:p.L216F

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PANK2

NM_001386393.1:p.L216F

hg38:chr20:3908273 C>T

Associated Papers

Patient-Derived Cellular Models for Polytarget Precision Medicine in Pantothenate Kinase-Associated Neurodegeneration.

Álvarez-Córdoba M et al.

Pharmaceuticals (basel, Switzerland), 2023

37895830 (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."