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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Lookup NU author(s): Rachel Soemedi, Dr Ana TopfORCiD, Dr Ian Wilson, Dr Rebecca Darlay, Dr Thahira Rahman, Dr Elise Glen, Dr Darroch Hall, Dr Mauro Santibanez Koref, Professor Heather Cordell, Professor Judith Goodship, Professor Bernard Keavney

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Author(s): Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devreindt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue G, Winlaw D, Hurles M, Santibanez-Koref M, Cordell H, Goodship J, Keavney B

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2012

Volume: 21

Issue: 7

Pages: 1513-1520

Print publication date: 22/12/2011

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/ddr589

DOI: 10.1093/hmg/ddr589

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