Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.P54Q
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CSF1R

NM_001288705.3:p.P54Q

Associated Papers

A rare intronic c.2654+1G>A mutation in CSF1R-microglial encephalopathy: a case report.

Wu H et al.

Frontiers in Genetics, 2025

Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.

Hu B et al.

Frontiers in Aging Neuroscience, 2021

Association between CSF1 and CSF1R Polymorphisms and Parkinson's Disease in Taiwan.

Chang KH et al.

Journal of Clinical Medicine, 2019

Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Three loops of the common gamma chain ectodomain required for the binding of interleukin-2 and interleukin-7.

Olosz F et al.

The Journal of Biological Chemistry, 2000

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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."