@article{article, title  = {{Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient}},

 publisher = {{Wiley}},

 url = {{https://eprints.whiterose.ac.uk/id/eprint/133114 https://doi.org/10.1002/ajmg.a.38656 }},

 year = {{2018}},

 month = {{4}},

 author = {{Willoughby J and Duff-Farrier C and Desurkar A and Kurian M and Raghavan A and DDD Study and Balasubramanian M}},

 doi = {{10.1002/ajmg.a.38656}},

 volume = {{176}},

 journal = {{American Journal of Medical Genetics Part A}},

 issue = {{5}},

 pages = {{1049-1054}},

 note = {{Accessed on 2025/10/31}}}