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Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.

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Title: Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease.
Authors: Martin-Geary, Alexandra C.1,2 (AUTHOR) alex.geary@well.ox.ac.uk, Blakes, Alexander J.M.3 (AUTHOR), Dawes, Ruebena1,2 (AUTHOR), Findlay, Scott D.4 (AUTHOR), Lord, Jenny5 (AUTHOR), Dong, Shan6,7 (AUTHOR), Walker, Susan8 (AUTHOR), Talbot-Martin, Jonathan9 (AUTHOR), Wieder, Nechama1,2 (AUTHOR), D'Souza, Elston N.1,2 (AUTHOR), Fernandes, Maria1,2 (AUTHOR), Hilton, Sarah10 (AUTHOR), Lahiri, Nayana11 (AUTHOR), Campbell, Christopher10 (AUTHOR), Jenkinson, Sarah10 (AUTHOR), DeGoede, Christian G.E.L.12,13 (AUTHOR), Anderson, Emily R.14 (AUTHOR), Candler, Toby15,16 (AUTHOR), Firth, Helen17,18,19 (AUTHOR), Burge, Christopher B.4 (AUTHOR)
Source: Genome Medicine. 4/14/2025, Vol. 17 Issue 1, p1-16. 16p.
Database: Academic Search Ultimate
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Description
ISSN:1756994X
DOI:10.1186/s13073-025-01464-2