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 journalArticle

3 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)409-410
Number of pages2
JournalHuman Mutation
Volume34
Issue number2
DOIs
StatePublished - Feb 2013

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Tuberous Sclerosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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Hoogeveen-Westerveld, M., Ekong, R., Povey, S., Mayer, K., Lannoy, N., Elmslie, F., ... 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

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. / Hoogeveen-Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Mayer, Karin; Lannoy, Nathalie; Elmslie, Frances; Bebin, Martina; Dies, Kira; Thompson, Catherine; Sparagana, Steven P.; Davies, Peter; van Eeghen, Agnies M.; Thiele, Elizabeth A.; van den Ouweland, Ans; Halley, Dicky; Nellist, Mark.

In: Human Mutation, Vol. 34, No. 2, 02.2013, p. 409-410.

Research output: Contribution to journalArticle

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
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F et al. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. Human Mutation. 2013 Feb;34(2):409-410. https://doi.org/10.1002/humu.22256
Hoogeveen-Westerveld, Marianne ; Ekong, Rosemary ; Povey, Sue ; Mayer, Karin ; Lannoy, Nathalie ; Elmslie, Frances ; Bebin, Martina ; Dies, Kira ; Thompson, Catherine ; Sparagana, Steven P. ; Davies, Peter ; van Eeghen, Agnies M. ; Thiele, Elizabeth A. ; van den Ouweland, Ans ; Halley, Dicky ; Nellist, Mark. / Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex. In: Human Mutation. 2013 ; Vol. 34, No. 2. pp. 409-410.
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