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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCG5

Variant:p.L168P

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SCG5

NM_001144757.3:p.L168P

hg38:chr15:32691723 T>C

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

40661833 (PubMed )

Supplement: 7485658.f1.pdf

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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."