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Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

January 5, 2017

Volume

100

Issue

1

Start / End Page

179

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences
  • 06 Biological Sciences
 

Citation

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Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., … Kortüm, F. (2017). De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet, 100(1), 179. https://doi.org/10.1016/j.ajhg.2016.12.004
Shashi, Vandana, Loren D. M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, et al. “De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet 100, no. 1 (January 5, 2017): 179. https://doi.org/10.1016/j.ajhg.2016.12.004.
Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2017 Jan 5;100(1):179.
Shashi, Vandana, et al. “De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Am J Hum Genet, vol. 100, no. 1, Jan. 2017, p. 179. Pubmed, doi:10.1016/j.ajhg.2016.12.004.
Shashi V, Pena LDM, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CTRM, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. Am J Hum Genet. 2017 Jan 5;100(1):179.
Journal cover image

Published In

Am J Hum Genet

DOI

EISSN

1537-6605

Publication Date

January 5, 2017

Volume

100

Issue

1

Start / End Page

179

Location

United States

Related Subject Headings

  • Genetics & Heredity
  • 42 Health sciences
  • 32 Biomedical and clinical sciences
  • 31 Biological sciences
  • 11 Medical and Health Sciences
  • 06 Biological Sciences