Varaico: Literature-Extracted Genetic Variants

Gene:BRF2
Variant:p.G72Splc
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BRF2

NM_018310.4:p.G72Splc

Associated Papers

Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.

Mattioli F et al.

Genome Medicine, 2025

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.

Oddsson A et al.

Nature Communications, 2023

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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."