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BAP1 activates Carcinoma, Renal Cell. 2 / 2
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"On the other hand, the occasionally described heterozygous deletions of these genes cannot be completely excluded in our series, because NGS procedure and mode of data analysis were not sensitive to moderate CNV (copy number variation), the detection of which was not the aim of this panel.Germline mutations in BAP1 are known to underlie sometimes melanomas, renal cell carcinomas, malignant mesotheliomas, and some other cancers [31]."
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"BAP1 germline mutations underlie a rare, autosomal dominant tumour predisposition syndrome that is most commonly associated with (in order of decreasing frequency) atypical Spitz tumours, uveal melano[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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