Varaico: Literature-Extracted Genetic Variants

Gene:BRAT1
Variant:p.C401*
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BRAT1

NM_152743.4:p.C401*

Associated Papers

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

Kong W et al.

Acta Neurologica Belgica, 2024

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

Engel C et al.

European Journal of Human Genetics : Ejhg, 2023

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Carapancea E et al.

Neurology, 2023

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

Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.

Cornet MC et al.

Epilepsia, 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."