A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development
- Submitting institution
-
University of Exeter
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 4452
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2019.03.018
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 985
- Volume
- 104
- Issue
- 5
- ISSN
- 0002-9297
- Open access status
- Compliant
- Month of publication
- April
- Year of publication
- 2019
- URL
-
-
- Supplementary information
-
https://www.sciencedirect.com/science/article/pii/S0002929719301144#app2
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- Yes
- Number of additional authors
-
22
- Research group(s)
-
A - Diabetes, Cardiovascular Risk and Aging
- Citation count
- 13
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- The author made a substantial contribution to the conception and design of the study, the carrying out the study, and to analysis and interpretation of study data. The author helped draft the output.
- Non-English
- No
- English abstract
- -