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Fig. 2 | BMC Cancer

Fig. 2

From: Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

Fig. 2

a. Pedigree of the studied family. Clinical phenotypes are represented with colors. Individuals screened for DICER1 mutations are indicated with + or — if the germ-line mutation was present or absent, respectively. The index patient is marked with an arrow. b. Schematic representation of DICER1 protein structure and corresponding gene exons. Positions of the here identified mutations are indicated. c. Electropherograms corresponding to the germ-line c.5347C > T (p.Q1783*) and somatic c.5425G > A (p.G1809R); c.5428G > C (p.D1810H) mutations

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