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PedAM

Pediatric Disease Annotations & Medicines




Disease li-fraumeni syndrome
Phenotype C0025149|medulloblastoma
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PubMedID- 24139898 Remarkably, the medulloblastoma genome of female li-fraumeni syndrome case lfs-mb1 is one of the strongest x hypermutated samples, although the patient’s secondary mds genome shows no x hypermutation (figure 7d and 7e), supporting our suggestion that x hypermutation is a cancer-specific feature.

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