The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study

<div>Functional study for the case #EXT-184. (a) Scheme of exon skipping due to c.933+2dup variant in the <i>PTPN11</i> gene. (b) Prediction of the effect on splicing mRNA of the <i>PTPN11</i> gene caused by c.933+2dup variant <i>in silico</i>. (c) The Sanger sequencing of PCR product. (d) Target deep NGS and isolation for IGV browser.</div>

Human Mutation

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Figure 4

Figure 4: The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study 

Human Mutation

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Figure 4