Varaico: Literature-Extracted Genetic Variants

Gene:BRAT1
Variant:p.Q526*
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BRAT1

NM_152743.4:p.Q526*

Associated Papers

Clinical characteristics of BRAT1-related disease: a systematic literature review.

Kong W et al.

Acta Neurologica Belgica, 2024

Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.

Li S et al.

Molecular Genetics & Genomic Medicine, 2023

Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

Rim JH et al.

Bmc Medical Genomics, 2018

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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."