ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
- Submitting institution
-
University College London
- Unit of assessment
- 4 - Psychology, Psychiatry and Neuroscience
- Output identifier
- 11401
- Type
- D - Journal article
- DOI
-
10.1038/s41436-018-0420-y
- Title of journal
- Genetics in Medicine
- Article number
- -
- First page
- 1761
- Volume
- 21
- Issue
- 8
- ISSN
- 1098-3600
- Open access status
- Compliant
- Month of publication
- January
- Year of publication
- 2019
- 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
-
29
- Research group(s)
-
-
- Citation count
- 31
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- The author made a substantial contribution to: A (iii) carrying out the study; B (i) The author helped draft the output; B (ii) critique the output for important intellectual content.
- Non-English
- No
- English abstract
- -
