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Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence

Lookup NU author(s): Professor Judith Goodship, Dr Victor Ruiz-Perez

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Author(s): Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SMH, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL

Publication type: Article

Journal: Human Mutation

Year: 2008

Volume: 29

Issue: 7

Pages: 931-938

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/humu.20778

DOI: 10.1002/humu.20778

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