Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David Kwiatkowski, Julian Sampson, Concha Vidales, Jacinta Dzarir, Javier Garcia‐Planells, Kira Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

Open source

DOI: 10.1002/humu.21451
Published: 2011-03-08
Container: Human Mutation
Publisher: Hindawi Limited
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1002/humu.21451,
  title = {Functional assessment of variants in the
            <i>TSC1</i>
            and
            <i>TSC2</i>
            genes identified in individuals with Tuberous Sclerosis Complex},
  author = {Marianne Hoogeveen‐Westerveld and Marjolein Wentink and Diana van den Heuvel and Melika Mozaffari and Rosemary Ekong and Sue Povey and Johan T. den Dunnen and Kay Metcalfe and Stephanie Vallee and Stefan Krueger and JoAnn Bergoffen and Vandana Shashi and Frances Elmslie and David Kwiatkowski and Julian Sampson and Concha Vidales and Jacinta Dzarir and Javier Garcia‐Planells and Kira Dies and Anneke Maat‐Kievit and Ans van den Ouweland and Dicky Halley and Mark Nellist},
  year = {2011},
  journal = {Human Mutation},
  doi = {10.1002/humu.21451},
  url = {https://doi.org/10.1002/humu.21451}
}

RIS

TY  - JOUR
TI  - Functional assessment of variants in the
            <i>TSC1</i>
            and
            <i>TSC2</i>
            genes identified in individuals with Tuberous Sclerosis Complex
AU  - Marianne Hoogeveen‐Westerveld
AU  - Marjolein Wentink
AU  - Diana van den Heuvel
AU  - Melika Mozaffari
AU  - Rosemary Ekong
AU  - Sue Povey
AU  - Johan T. den Dunnen
AU  - Kay Metcalfe
AU  - Stephanie Vallee
AU  - Stefan Krueger
AU  - JoAnn Bergoffen
AU  - Vandana Shashi
AU  - Frances Elmslie
AU  - David Kwiatkowski
AU  - Julian Sampson
AU  - Concha Vidales
AU  - Jacinta Dzarir
AU  - Javier Garcia‐Planells
AU  - Kira Dies
AU  - Anneke Maat‐Kievit
AU  - Ans van den Ouweland
AU  - Dicky Halley
AU  - Mark Nellist
PY  - 2011
JO  - Human Mutation
DO  - 10.1002/humu.21451
UR  - https://doi.org/10.1002/humu.21451
ER  -

APA

Hoogeveen‐Westerveld, M., Wentink, M., Heuvel, D. V. D., Mozaffari, M., Ekong, R., Povey, S., Dunnen, J. T. D., Metcalfe, K., Vallee, S., Krueger, S., Bergoffen, J., Shashi, V., Elmslie, F., Kwiatkowski, D., Sampson, J., Vidales, C., Dzarir, J., Garcia‐Planells, J., Dies, K., Maat‐Kievit, A., Ouweland, A. V. D., Halley, D., & Nellist, M. (2011). Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human Mutation. https://doi.org/10.1002/humu.21451

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crossref · retrieved 2026-09-25T02:15:05.929Z

Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

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