A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
- DOI
- 10.1186/s40246-020-00281-5
- Published
- 2020 Sep 18
- Container
- Human genomics
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1186/s40246-020-00281-5,
title = {A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.},
author = {Sapey-Triomphe LA and Reversat J and Lesca G and Chatron N and Bussa M and Mazoyer S and Schmitz C and Sonié S and Edery P},
year = {2020},
journal = {Human genomics},
doi = {10.1186/s40246-020-00281-5},
url = {https://doi.org/10.1186/s40246-020-00281-5}
}RIS
TY - JOUR TI - A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability. AU - Sapey-Triomphe LA AU - Reversat J AU - Lesca G AU - Chatron N AU - Bussa M AU - Mazoyer S AU - Schmitz C AU - Sonié S AU - Edery P PY - 2020 JO - Human genomics DO - 10.1186/s40246-020-00281-5 UR - https://doi.org/10.1186/s40246-020-00281-5 ER -
APA
LA, S., J, R., G, L., N, C., M, B., S, M., C, S., S, S., & P, E. (2020). A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.. Human genomics. https://doi.org/10.1186/s40246-020-00281-5
Source records
- pubmed · retrieved 2026-09-25T17:54:56.156Z