Literature DB >> 26852664

BRAT1 and TSEN54: Important Roles in Basic Cellular Processes and Similar Phenotypes.

Eugenio Grillo1.   

Abstract

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Year:  2016        PMID： 26852664     DOI： 10.1016/j.pediatrneurol.2015.12.001

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


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  1 in total

1.  An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.

Authors:  Fatma Kurt Colak; Naz Guleray; Ebru Azapagasi; Mutlu Uysal Yazıcı; Erhan Aksoy; Nesrin Ceylan
Journal:  Acta Neurol Belg       Date:  2020-10-10       Impact factor: 2.396
  1 in total

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