@misc{misc, title = {{Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease}}, url = {{https://doi.org/10.1101/2023.09.12.23295416 }}, year = {{2023}}, month = {{9}}, author = {{Martin-Geary AC and Blakes AJM and Dawes R and Findlay SD and Lord J and Walker S and Talbot-Martin J and Wieder N and D’Souza EN and Fernandes M and Hilton S et al}}, doi = {{10.1101/2023.09.12.23295416}}, note = {{Accessed on 2026/01/25}}}