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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRAT1

Variant:p.S151_L152insFs

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BRAT1

NM_152743.4:p.S151_L152insFs

hg38:chr7:2543940 G>GATCTTCTC

Associated Papers

A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.

Pourahmadiyan A et al.

The International Journal of Neuroscience, 2021

32345087 (PubMed )

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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."