Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.Y246fs
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STK11

NM_000455.5:p.Y246fs

Associated Papers

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

Gazzaz N et al.

American Journal of Medical Genetics. Part A, 2022

Deleterious mis-splicing of STK11 caused by a novel single-nucleotide substitution in the 3' polypyrimidine tract of intron five.

Terkelsen T et al.

Molecular Genetics & Genomic Medicine, 2020

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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."