Varaico: Literature-Extracted Genetic Variants

Gene:BRAT1
Variant:p.R78P
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BRAT1

NM_152743.4:p.R78P

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

Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.

Li W et al.

Pediatric Research, 2022

Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.

Qi Y et al.

Frontiers in Genetics, 2022

A review of the clinical spectrum of BRAT1 disorders and case of developmental and epileptic encephalopathy surviving into adulthood.

Fowkes R et al.

Epilepsy & Behavior Reports, 2022

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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."