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. 2020 Dec 22;13:1613–1620. doi: 10.2147/IJGM.S286421

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© 2020 Chen et al.

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Genetic test results of CSF1R-related leukoencephalopathy. (A) The CSF1R gene on chromosome 5 (exon 19) was c.2463G >C (p.W821C) with the missense mutation. The genetic code was mutated from GGA to GCA, leading to the changes of tryptophan number 821 to cysteine. The red arrow and red circle mean the base mutation site. (B) Results of insilico analysis for the W821C mutations by SIFT, Polyphen2, Mutation Taster and Mutation Assessor.