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Identification of a Germline Deep Intronic PTEN-deletion Leading to Exonization Through Whole Genome and Targeted RNA Sequencing.

Morgane Boedec,Camille Aucouturier,Mathias Cavaillé,Raphaël Leman,Laurent Castéra,Hélène Delhomelle,Nancy Uhrhammer, Virginie Bernard,Sophie Giraud, Eulalie Lasseaux, Natalie Jones,Marie Bidart,Nadia Boutry-Kryza,Catherine Noguès,Chrystelle Colas,Christine Maugard,Sophie Krieger,Ahmed Bouras

Familial Cancer（2025）

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Key words
PTEN,Whole genome sequencing,Deep intronic variants,PTEN Hemartoma Tumor Syndrome
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