Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.G288Splc
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STK11

NM_000455.5:p.G288Splc

Associated Papers

A dominant vimentin variant causes a rare syndrome with premature aging.

Cogné B et al.

European Journal of Human Genetics : Ejhg, 2020

32066935 (PubMed )
Supplement: 41431_2020_583_MOESM3_ESM.xlsx › Feuil1

Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

Olschwang S et al.

Journal of Medical Genetics, 2001

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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."