Varaico: Literature-Extracted Genetic Variants

Gene:BRAT1
Variant:p.S151_L152ins2
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BRAT1

NM_152743.4:p.S151_L152ins2

Associated Papers

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

Colak FK et al.

Acta Neurologica Belgica, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."