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Eur J Med Genet. 2013 Sep;56(9):471-4. doi: 10.1016/j.ejmg.2013.06.010. Epub 2013 Jul 12.

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations.

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1
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

Abstract

The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database.

KEYWORDS:

Array; Copy number variant; Database; ECARUCA; European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations; LDDB; Unbalanced chromosome aberration; Winter-Baraitser London Dysmorphology DataBase

PMID:
23851227
DOI:
10.1016/j.ejmg.2013.06.010
[Indexed for MEDLINE]
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