TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

LS Farach; WT Gibson; SP Sparagana; Mark Nellist; C Stumpel; M Hietala; E Friedman; DA Pearson; SP Creighton; A Wagemans; R Segel; E Ben-Shalom; KS Au; H Northrup

doi:10.1002/ajmg.a.38083

TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

LS Farach, WT Gibson, SP Sparagana, Mark Nellist, C Stumpel, M Hietala, E Friedman, DA Pearson, SP Creighton, A Wagemans, R Segel, E Ben-Shalom, KS Au, H Northrup

Clinical Genetics

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

9 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	771-775
Number of pages	5
Journal	American Journal of Medical Genetics Part A
Volume	173
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.38083
Publication status	Published - 2017

Access to Document

10.1002/ajmg.a.38083

http://hdl.handle.net/1765/98071

Cite this

Farach, LS., Gibson, WT., Sparagana, SP., Nellist, M., Stumpel, C., Hietala, M., Friedman, E., Pearson, DA., Creighton, SP., Wagemans, A., Segel, R., Ben-Shalom, E., Au, KS., & Northrup, H. (2017). TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex. American Journal of Medical Genetics Part A, 173(3), 771-775. https://doi.org/10.1002/ajmg.a.38083

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Farach, LS, Gibson, WT, Sparagana, SP, Nellist, M, Stumpel, C, Hietala, M, Friedman, E, Pearson, DA, Creighton, SP, Wagemans, A, Segel, R, Ben-Shalom, E, Au, KS & Northrup, H 2017, 'TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex', American Journal of Medical Genetics Part A, vol. 173, no. 3, pp. 771-775. https://doi.org/10.1002/ajmg.a.38083

TY - JOUR

T1 - TSC2 c.1864C > T Variant Aassociated with Mild Cases of Tuberous Sclerosis Complex

AU - Farach, LS

AU - Gibson, WT

AU - Sparagana, SP

AU - Nellist, Mark

AU - Stumpel, C

AU - Hietala, M

AU - Friedman, E

AU - Pearson, DA

AU - Creighton, SP

AU - Wagemans, A

AU - Segel, R

AU - Ben-Shalom, E

AU - Au, KS

AU - Northrup, H

PY - 2017

Y1 - 2017

U2 - 10.1002/ajmg.a.38083

DO - 10.1002/ajmg.a.38083

M3 - Article

VL - 173

SP - 771

EP - 775

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -