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Clinical Research
A study for patients with unexpected genetic results
… TSC2 BMPR1A ENG MSH2 PRKAG2 SMAD4 TTN BRCA1 FBN1 MSH6 PTEN STK11 TTR BRCA2 FLNC MUTYH RB1 TGFBR1 VHL BTD GAA MYBPC3 …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… breast cancer), PAH (associated with phenylketonuria), and PTEN (associated with a tumor syndrome). Clinicians can use …
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… KCNE2 PROS1 TSC2 SLC37A4 KCNH2 PTCH1 VHL SLC7A9 KCNJ2 PTEN Amendola et al. Genome Res 2015. PMID: 25637381 …  Penetrance MUTYH ✔ ✔ Autosomal Dominant  Penetrance PTEN, TP53, GALNT12, POLE, POLD1, GREM1, AKT1, PIK3CA ✔ …
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… 12: Li -Fraumeni, 5: Paraganglioma/Pheochromocytoma, 2: PTEN -hamartoma , 2: TSC, 2: MEN1, 1: VHL, 1: CLL (somatic) …