Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.P416R
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CSF1

NM_000757.6:p.P416R

Associated Papers

The bone phenotype associated with cherubism is independent of Caspase-1-dependent inflammasome activation in the mouse.

Rabhi BV et al.

Plos One, 2025

SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.

Mukai T et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014

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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."