Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.L245Splc
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STK11

NM_000455.5:p.L245Splc

Associated Papers

Reclassification of variants of tumor suppressor genes based on Sanger RNA sequencing without NMD inhibition.

Ha C et al.

Frontiers in Genetics, 2023

One novel deletion and one splicing mutation of the LKB1 gene in two Chinese patients with Peutz-Jeghers syndrome.

Chen C et al.

Dna and Cell Biology, 2012

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

Mehenni H et al.

Digestive Diseases and Sciences, 2007

Cancer risks in LKB1 germline mutation carriers.

Mehenni H et al.

Gut, 2006

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

Resta N et al.

Human Mutation, 2002

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity.

Mehenni H et al.

American Journal of Human Genetics, 1998

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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."