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Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. [electronic resource] by
- Tyburczy, Magdalena E
- Dies, Kira A
- Glass, Jennifer
- Camposano, Susana
- Chekaluk, Yvonne
- Thorner, Aaron R
- Lin, Ling
- Krueger, Darcy
- Franz, David N
- Thiele, Elizabeth A
- Sahin, Mustafa
- Kwiatkowski, David J
Producer: 20160603
In:
PLoS genetics vol. 11
Availability: No items available.
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Lymphangioleiomyomatosis: cause of a malignant chylous pleural effusion. [electronic resource] by
- Malinowska-Kolodziej, Izabela
- Finlay, Geraldine
- Campbell, Gregory
- Garcia-Moliner, Maria L
- Weinstein, Barbara
- Doughty, Cheryl A
- Qin, Wei
- Butterfield, Catherine
- Short, Sarah
- Seyama, Kuniaki
- Kwiatkowski, David J
Producer: 20100107
In:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology vol. 28
Availability: No items available.
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The genomic landscape of tuberous sclerosis complex. [electronic resource] by
- Martin, Katie R
- Zhou, Wanding
- Bowman, Megan J
- Shih, Juliann
- Au, Kit Sing
- Dittenhafer-Reed, Kristin E
- Sisson, Kellie A
- Koeman, Julie
- Weisenberger, Daniel J
- Cottingham, Sandra L
- DeRoos, Steven T
- Devinsky, Orrin
- Winn, Mary E
- Cherniack, Andrew D
- Shen, Hui
- Northrup, Hope
- Krueger, Darcy A
- MacKeigan, Jeffrey P
Producer: 20181214
In:
Nature communications vol. 8
Availability: No items available.
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Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. [electronic resource] by
- Hoogeveen-Westerveld, Marianne
- Ekong, Rosemary
- Povey, Sue
- Karbassi, Izabela
- Batish, Sat Dev
- den Dunnen, Johan T
- van Eeghen, Agnies
- Thiele, Elizabeth
- Mayer, Karin
- Dies, Kira
- Wen, Li
- Thompson, Catherine
- Sparagana, Steven P
- Davies, Peter
- Aalfs, Cora
- van den Ouweland, Ans
- Halley, Dicky
- Nellist, Mark
Producer: 20120608
In:
Human mutation vol. 33
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