Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas

作者: Lauren Fishbein , Sanika Khare , Bradley Wubbenhorst , Daniel DeSloover , Kurt D’Andrea

DOI: 10.1038/NCOMMS7140

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摘要: … Interestingly, two of seven SDHB-associated tumours had deleterious variants in ATRX (PP119F1 p.W2275X and PP098F2 p.R2197H in the conserved helicase domain at an amino-…

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