Varaico: Literature-Extracted Genetic Variants

Gene:STK11
Variant:p.E199E
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STK11

NM_000455.5:p.E199E

Associated Papers

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.

Leman R et al.

Human Mutation, 2022

36273432 (PubMed )
Supplement: HUMU-43-2308-s002.xlsx › Feuil1

Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Cerasuolo A et al.

International Journal of Molecular Sciences, 2020

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