A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
- Submitting institution
-
University of Edinburgh
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 32935575
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2016.03.018
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 981
- Volume
- 98
- Issue
- 5
- ISSN
- 0002-9297
- Open access status
- Out of scope for open access requirements
- Month of publication
- April
- Year of publication
- 2016
- 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
- Yes
- Number of additional authors
-
37
- Research group(s)
-
B - Genetics
- Citation count
- 39
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- The submitted member of staff to whom the output is attributed is identified as the joint last and corresponding author.
- Non-English
- No
- English abstract
- -
