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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSF1R

Variant:p.K586E

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CSF1R

NM_001288705.3:p.K586E

hg38:chr5:150061593 T>C

Associated Papers

CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

Pridans C et al.

Scientific Reports, 2013

24145216 (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."