A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development
- Submitting institution
-
University College London
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 1685
- Type
- D - Journal article
- DOI
-
10.1093/hmg/ddw186
- Title of journal
- Human molecular genetics
- Article number
- -
- First page
- 3446
- Volume
- 25
- Issue
- 16
- ISSN
- 0964-6906
- Open access status
- Compliant
- Month of publication
- July
- Year of publication
- 2016
- URL
-
-
- Supplementary information
-
https://oup.silverchair-cdn.com/oup/backfile/Content_public/Journal/hmg/25/16/10.1093_hmg_ddw186/3/ddw186_Supp.zip?Expires=1608735805&Signature=oWGGEXjzAP5YENQwA7ZhL9ph~pOyuR8UuoEpy~LVLo2C2zSUXdcBPwi4gm7yflOe~eAR1TEF2nhqqUZUnE-NyaDj5eih9wUoR0if2MQXmcLfmL26pdhI1digQqzB2KQhbcPQAJ8Aw2XFWGagKWAG~N-ppEK6wRFDEdTxEXrFq59ZipSIkiJTTM1G~sxx2lIWmM5N683MSt5Kthnn6Ic77dDuABllYj05dZSLJij4-mIxjh7jv3nr0YzvYO4TIZyVJCB4hlrtTEWQ4r10reI9ByeKx0wXMzFnqpuwNqLeFswdlizPxpDgg4IZz4P3fGtIkeY1SOd-Hz4Vcqu04k2ftA__&Key-Pair-Id=APKAIE5G5CRDK6RD3PGA
- 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
-
26
- Research group(s)
-
-
- Citation count
- 43
- 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 author helped critique the output for important intellectual content.
- Non-English
- No
- English abstract
- -