Identification of a de novo DYNC1H1 mutation via WES according to published guidelines
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep20423.pdf
Reference28 articles.
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2. Feng, L. et al. Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome. J Hum Genet 60(3), 165 (2015).
3. Mok, K. et al. Homozygosity analysis in amyotrophic lateral sclerosis. Eur J Hum Genet 21(12), 1429 (2013).
4. Johar, A. S. et al. Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture. Autoimmun Rev 14(3), 204 (2015).
5. MacArthur, D. G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508(7497), 469 (2014).
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