De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
- Submitting institution
-
University of Cambridge
- Unit of assessment
- 4 - Psychology, Psychiatry and Neuroscience
- Output identifier
- 12502
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2020.06.016
- Title of journal
- Am J Hum Genet
- Article number
- -
- First page
- 311
- Volume
- 107
- Issue
- 2
- ISSN
- 1537-6605
- Open access status
- Compliant
- Month of publication
- August
- Year of publication
- 2020
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
92
- Research group(s)
-
-
- Citation count
- 2
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- The researcher submitted to REF made a substantial contribution to carrying out the study, and to analysis and interpretation of study data. The researcher also helped draft the output and critiqued the output for important intellectual content.
- Non-English
- No
- English abstract
- -