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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XPNPEP3

Variant:p.K285_F286Splc

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XPNPEP3

NM_022098.4:p.K285_F286Splc

hg38:chr22:40909120 A>G

Associated Papers

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Schierbaum L et al.

Brain : a Journal of Neurology, 2026

41640354 (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."