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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSF1R

Variant:p.P349delFs

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CSF1R

NM_001288705.3:p.P349delFs

hg38:chr5:150073335 TG>T

Associated Papers

Colony-stimulating factor-1 receptor-related disorder in the Hispanic population.

Chmiela TM et al.

Parkinsonism & Related Disorders, 2025

40489910 (PubMed )

Global Presence and Penetrance of CSF1R-Related Disorder.

Dulski J et al.

Neurology. Genetics, 2024

39280886 (PubMed )

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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."