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:https://doi.org/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

AR&D - Amsterdam Reproduction & Development

Research output: Contribution to journal › Comment/Letter to the editor › Academic

3 Citations (Scopus)

Original language	English
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
Publication status	Published - Feb 2013

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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

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title = "Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex",

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",

year = "2013",

month = feb,

doi = "https://doi.org/10.1002/humu.22256",

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issn = "1059-7794",

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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

TY - JOUR

T1 - Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

AU - Hoogeveen-Westerveld, Marianne

AU - Ekong, Rosemary

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

PY - 2013/2

Y1 - 2013/2

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UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84873086900&origin=inward

U2 - https://doi.org/10.1002/humu.22256

DO - https://doi.org/10.1002/humu.22256

M3 - Comment/Letter to the editor

SN - 1059-7794

VL - 34

SP - 409

EP - 410

JO - Human mutation

JF - Human mutation

IS - 2

ER -

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

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