Varaico: Literature-Extracted Genetic Variants

Gene:FBRSL1
Variant:p.R194_H201delFs
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FBRSL1

NM_001382742.1:p.R194_H201delFs

Associated Papers

FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.

Kastens G et al.

Human Genetics, 2025

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.

Ufartes R et al.

Human Genetics, 2020

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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."