IndraLab
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"Using patient derived lymphoblastoid cell lines, we found that carriers of pathogenic BAP1 germline variants (c. 852_del and c. 1358_1359del) had reduced expression of full-length BAP1, Vimentin and Snail, as compared to controls with wild-type BAP1 (BAP1 WT), whereas BAP1 germline VUS (c. 299T> C and c. 551A> G) or likely benign carriers were not significantly different from wild-type BAP1 WT."