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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAPDH

Variant:p.L270R

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GAPDH

NM_002046.7:p.L270R

hg38:chr12:6537867 T>G

Associated Papers

Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma.

Malovitski K et al.

The British Journal of Dermatology, 2025

40359362 (PubMed )

Supplement: ljaf181_supplementary_data.docx

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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."