Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz–Jeghers Syndrome: Bioinformatic and Molecular Evidence
International Journal of Molecular Sciences（2020）
Key words
Peutz-Jeghers Syndrome (PJS),cafe au lait spots,splicing variants,Enhancer Splicing Element,presymptomatic diagnosis,cancer prevention,risk management
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