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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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  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 4/14/2025, Vol. 17 Issue 1, p1-16. 16p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184470796
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