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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Publication
, Journal Article
Shashi, V; Pena, LDM; Kim, K; Burton, B; Hempel, M; Schoch, K; Walkiewicz, M; McLaughlin, HM; Cho, M; Stong, N; Hickey, SE; Shuss, CM ...
Published in: Am J Hum Genet
January 5, 2017
Duke Scholars
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
APA
Chicago
ICMJE
MLA
NLM
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](https://secure.syndetics.com/index.aspx?isbn=/lc.gif&issn=1537-6605&client=dukeuniv)
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