Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.M1V
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STK11

NM_000455.5:p.M1V

Associated Papers

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › ATM_

WDR45, one gene associated with multiple neurodevelopmental disorders.

Cong Y et al.

Autophagy, 2021

Disrupted minor intron splicing is prevalent in Mendelian disorders.

Olthof AM et al.

Molecular Genetics & Genomic Medicine, 2020

32573973 (PubMed )
Supplement: MGG3-8-e1374-s004.xlsx › Sheet1

Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.

Pereira C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753023_rh1cjx.pdf

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › LUAD-mutations

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

Aretz S et al.

Human Mutation, 2005

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

Hastings ML et al.

Nature Structural & Molecular Biology, 2005

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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."