ExonDel statistics

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Citations per year

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Associated diseases

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ExonDel specifications

Information


Unique identifier OMICS_06150
Name ExonDel
Software type Package/Module
Interface Command line interface
Restrictions to use None
Operating system Unix/Linux
Programming languages Perl, R
License GNU General Public License version 2.0
Computer skills Advanced
Stability Stable
Maintained Yes

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Documentation


Publication for ExonDel

ExonDel in publication

PMCID: 3798855
PMID: 23695287
DOI: 10.1038/ejhg.2013.83

[…] analysis of both parents., there is considerable difficulty, however, in using hgvs for the well-known deletions including those found in the gjb6 gene (http://www.hgvs.org/mutnomen/uncertain.html#exondel). we suggest that for reporting purposes, it is acceptable to use original deletion names that is, del(gjb6-d13s1830). the combination of a mutation in gjb2 and a deletion in gjb6 […]


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ExonDel institution(s)
Vanderbilt Ingram Cancer Center, Center for Quantitative Sciences, Nashville, TN, USA

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