Varaico: Literature-Extracted Genetic Variants

Gene:CSF1R
Variant:p.K793E
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CSF1R

NM_001288705.3:p.K793E

Associated Papers

Microglia replacement halts the progression of microgliopathy in mice and humans.

Wu J et al.

Science (new York, N.y.), 2025

40638739 (PubMed )
Supplement: science.adr1015_tables_s1_to_s11.zip › science.adr1015_table_s6.xlsx › Clinical_profiles_of_PET

Evaluation of Soluble Colony Stimulating Factor 1 Receptor (CSF1R) in Peripheral Blood as a Diagnostic Marker of CSF1R-Related Disorder (CSF1R-RD) in a Murine Model and CSF1R-RD Patients.

Hu B et al.

Annals of Neurology, 2025

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
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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."