Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
- Submitting institution
-
The University of Manchester
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 84881570
- Type
- D - Journal article
- DOI
-
10.1016/j.ajhg.2014.04.003
- Title of journal
- American Journal of Human Genetics
- Article number
- -
- First page
- 760
- Volume
- 94
- Issue
- 5
- ISSN
- 0002-9297
- Open access status
- Out of scope for open access requirements
- Month of publication
- May
- Year of publication
- 2014
- 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
-
14
- Research group(s)
-
E - Evolution and Genomic Sciences
- Citation count
- 40
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
