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Re‐evaluating the Pathogenicity of the C.783+2t>c BAP1 Germline Variant

Yael Goldberg,Yael Laitman,Merav Ben David,Lily Bazak,Gabriel Lidzbarsky, Lina B. Salmon,Shiri Shkedi-Rafid,Iris Barshack,Camila Avivi,Malak Darawshe,Noam Shomron, Revital Bruchim,Chana Vinkler,Drakoulis Yannoukakos,Florentia Fostira,Rinat Bernstein-Molho,Eitan Friedman

Human mutation（2021）

Cited 5|Views13
Key words
allelic loss,alternative splicing,BAP1 germline sequence variant,protein somatic expression patterns,variant of unknown significance
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