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Fig. 3 | Diagnostic Pathology

Fig. 3

From: A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

Fig. 3

A Somatic mutation of in TCS2. One TSC2 missense somatic mutation (p.R905W) was detected by WGS. B Intron region of TCS2 with a novel germline mutation displayed by IGV. The RNA-Seq reads in the intron region with a novel germline mutation next to the acceptor site (chr16:2126489, C > G) are retained between exons 24 and 25. The first and second panels show the intron region of the patient with TSC investigated in this study and a patient with sarcoma from TCGA, respectively. TSC, Tuberous sclerosis complex; WGS, whole-genome sequencing

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Diagnostic Pathology

ISSN: 1746-1596

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