Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.G591E
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CSF1R

NM_001288705.3:p.G591E

Associated Papers

De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.

Fisher KS et al.

Epilepsia, 2025

Global Presence and Penetrance of CSF1R-Related Disorder.

Dulski J et al.

Neurology. Genetics, 2024

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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."