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

Marianne Hoogeveen - Westerveld; R Ekong; S Povey; K Mayer; N Lannoy; F Elmslie; M Bebin; K Dies; C Thompson; SP Sparagana; P Davies; Ans van den Ouweland; Dicky Halley; Mark Nellist

doi:10.1002/humu.22202

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

Marianne Hoogeveen - Westerveld, R Ekong, S Povey, K Mayer, N Lannoy, F Elmslie, M Bebin, K Dies, C Thompson, SP Sparagana, P Davies, Ans van den Ouweland, Dicky Halley, Mark Nellist

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

57 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	167-175
Number of pages	9
Journal	Human Mutation
Volume	34
Issue number	1
DOIs	https://doi.org/10.1002/humu.22202
Publication status	Published - 2013

Research programs

EMC MGC-02-96-01

Access to Document

10.1002/humu.22202

http://hdl.handle.net/1765/63554

Cite this

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

author = "{Hoogeveen - Westerveld}, Marianne and R Ekong and S Povey and K Mayer and N Lannoy and F Elmslie and M Bebin and K Dies and C Thompson and SP Sparagana and P Davies and {van den Ouweland}, Ans and Dicky Halley and Mark Nellist",

year = "2013",

doi = "10.1002/humu.22202",

language = "Undefined/Unknown",

volume = "34",

pages = "167--175",

journal = "Human Mutation",

issn = "1059-7794",

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

AU - Hoogeveen - Westerveld, Marianne

AU - Ekong, R

AU - Povey, S

AU - Mayer, K

AU - Lannoy, N

AU - Elmslie, F

AU - Bebin, M

AU - Dies, K

AU - Thompson, C

AU - Sparagana, SP

AU - Davies, P

AU - van den Ouweland, Ans

AU - Halley, Dicky

AU - Nellist, Mark

PY - 2013

Y1 - 2013

U2 - 10.1002/humu.22202

DO - 10.1002/humu.22202

M3 - Article

C2 - 22903760

SN - 1059-7794

VL - 34

SP - 167

EP - 175

JO - Human Mutation

JF - Human Mutation

IS - 1

ER -