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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STK11

Variant:p.P280_P281delFs

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STK11

NM_000455.5:p.P280_P281delFs

hg38:chr19:1221314 GCC>G

Associated Papers

Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.

Lazareva TE et al.

Journal of Personalized Medicine, 2024

39202055 (PubMed )

Supplement: jpm-14-00864-s001.zip › jpm-3099412-supplementary › Supplementary_Table_S1.xlsx › SNP

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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."