Literature DB >> 25645277

Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Deb Pal, Ingo Helbig.   

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Year:  2015        PMID： 25645277     DOI： 10.1111/epi.12906

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  3 in total

1.  Identifying domains of EFHC1 involved in ciliary localization, ciliogenesis, and the regulation of Wnt signaling.

Authors:  Ying Zhao; Jianli Shi; Mark Winey; Michael W Klymkowsky
Journal:  Dev Biol       Date:  2016-01-16       Impact factor: 3.582

Review 2.  Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.

Authors:  Ingo Helbig; Abou Ahmad N Tayoun
Journal:  Mol Syndromol       Date:  2016-08-20

3.  ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Authors:  Caitlin A Bennett; Slavé Petrovski; Karen L Oliver; Samuel F Berkovic
Journal:  Neurol Genet       Date:  2017-07-06
  3 in total

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