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New insights into the generation and role of de novo mutations in health and disease.
Genome Biol. 2016 Nov 28;17(1):241. doi: 10.1186/s13059-016-1110-1.
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Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
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A four-gene signature predicts survival in clear-cell renal-cell carcinoma.
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Neurocutaneous Manifestations of Genetic Mosaicism.
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Overgrowth Syndromes.
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Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.
Sci Transl Med. 2016 Mar 30;8(332):332ra43. doi: 10.1126/scitranslmed.aad9982.
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Somatic PIK3CA mutations as a driver of sporadic venous malformations.
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mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.
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How PI3K-derived lipids control cell division.
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