Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen-Westerveld; Rosemary Ekong; Sue Povey; Karin Mayer; Nathalie Lannoy; Frances Elmslie; Martina Bebin; Kira Dies; Catherine Thompson; Steven P. Sparagana; Peter Davies; Agnies M. van Eeghen; Elizabeth A. Thiele; Ans van den Ouweland; Dicky Halley; Mark Nellist

doi:10.1002/humu.22256

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

Research output: Contribution to journal › Comment/debate › peer-review

3 Scopus citations

Original language	English (US)
Pages (from-to)	409-410
Number of pages	2
Journal	Human mutation
Volume	34
Issue number	2
DOIs	https://doi.org/10.1002/humu.22256
State	Published - Feb 2013

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., Bebin, M., Dies, K., Thompson, C., Sparagana, S. P., Davies, P., van Eeghen, A. M., Thiele, E. A., van den Ouweland, A., Halley, D., & Nellist, M. (2013). Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Human mutation, 34(2), 409-410. https://doi.org/10.1002/humu.22256

Hoogeveen-Westerveld, M, Ekong, R, Povey, S, Mayer, K, Lannoy, N, Elmslie, F, Bebin, M, Dies, K, Thompson, C, Sparagana, SP, Davies, P, van Eeghen, AM, Thiele, EA, van den Ouweland, A, Halley, D & Nellist, M 2013, 'Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex', Human mutation, vol. 34, no. 2, pp. 409-410. https://doi.org/10.1002/humu.22256

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author = "Marianne Hoogeveen-Westerveld and Rosemary Ekong and Sue Povey and Karin Mayer and Nathalie Lannoy and Frances Elmslie and Martina Bebin and Kira Dies and Catherine Thompson and Sparagana, {Steven P.} and Peter Davies and {van Eeghen}, {Agnies M.} and Thiele, {Elizabeth A.} and {van den Ouweland}, Ans and Dicky Halley and Mark Nellist",

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AU - Hoogeveen-Westerveld, Marianne

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AU - Povey, Sue

AU - Mayer, Karin

AU - Lannoy, Nathalie

AU - Elmslie, Frances

AU - Bebin, Martina

AU - Dies, Kira

AU - Thompson, Catherine

AU - Sparagana, Steven P.

AU - Davies, Peter

AU - van Eeghen, Agnies M.

AU - Thiele, Elizabeth A.

AU - van den Ouweland, Ans

AU - Halley, Dicky

AU - Nellist, Mark

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Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

ASJC Scopus subject areas

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