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Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

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Title: Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.
Authors: Uwibambe, Esther1,2 (AUTHOR), Yalcouyé, Abdoulaye3 (AUTHOR), Aboagye, Elvis Twumasi2 (AUTHOR), Xhakaza, Lettilia2 (AUTHOR), Popel, Kalinka2 (AUTHOR), Dukuze, Norbert1 (AUTHOR), Bharadwaj, Thashi4 (AUTHOR), de Kock, Carmen2 (AUTHOR), Schrauwen, Isabelle5 (AUTHOR), Leal, Suzanne M.4,6 (AUTHOR), Mutesa, Leon1 (AUTHOR), Wonkam, Ambroise2,3 (AUTHOR) awonkam1@jhmi.edu
Source: BMC Medical Genomics. 5/13/2025, Vol. 18 Issue 1, p1-9. 9p.
Database: Academic Search Ultimate
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ISSN:17558794
DOI:10.1186/s12920-025-02153-0