Varaico: Literature-Extracted Genetic Variants

Gene:BRAT1
Variant:p.L236fs
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BRAT1

NM_152743.4:p.L236fs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

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

Kong W et al.

Acta Neurologica Belgica, 2024

Prenatal evaluation of genetic variants in fetuses with small head circumference: A single-center retrospective study.

Liu J et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 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 Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome.

Qi Y et al.

Frontiers in Genetics, 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."