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Fig. 3 | Journal of Medical Case Reports

Fig. 3

From: Peripheral precocious puberty in Li–Fraumeni syndrome: a case report and literature review of pure androgen-secreting adrenocortical tumors

Fig. 3

Adapted from Tanaka et al. [40]

Genetic testing. A Integrative Genomics Viewer (IGV) graphic showing a single nucleotide variant (SNV) in the TP53 gene (G>A), producing p.Arg158His alteration. The reference sequence used is NM_000546.5. B TP53 gene diagram shows that the R158H variant hits the functional part of the DNA-binding domain of P53 and imparts a transcriptional activity comparable to null variants. C Domain structure of p53.

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Journal of Medical Case Reports

ISSN: 1752-1947