Varaico: Literature-Extracted Genetic Variants

Gene:BRF1
Variant:p.W218G
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BRF1

NM_001519.4:p.W218G

Associated Papers

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Nerakh G et al.

Clinical Dysmorphology, 2025

Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Yin H et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

Resolving the phylogenetic origin of glioblastoma via multifocal genomic analysis of pre-treatment and treatment-resistant autopsy specimens.

Brastianos PK et al.

Npj Precision Oncology, 2017

29872714 (PubMed )
Supplement: 41698_2017_35_MOESM2_ESM.xlsx › phylogic_mafs
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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."