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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LBR

Variant:p.L122_K123Splc

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LBR

NM_002296.4:p.L122_K123Splc

hg38:chr1:225421980 T>C

Associated Papers

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.

Zhao A et al.

Genes & Diseases, 2025

39386107 (PubMed )

Supplement: mmc2.xlsx › standard

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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."