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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for Somatic Variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Abbe Lai,Aubrie Soucy,Christelle Moufawad El Achkar,Anthony J. Barkovich,Yang Cao,Marina DiStefano,Michael Evenson,Renzo Guerrini,Devon Knight,Yi-Shan Lee,Heather C. Mefford,David T. Miller,Ghayda Mirzaa,Ganesh Mochida,Lance H. Rodan,Mayher Patel,Lacey Smith,Sara Spencer,Christopher A. Walsh,Edward Yang,Christopher J. Yuskaitis,Timothy Yu,Annapurna Poduri

Genetics in Medicine（2022）

Cited 13|Views29
Key words
AKT3,MTOR,PIK3CA,Somatic mosaicism
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