Table 3
List of variants found by whole exome sequencing carried out in this patient's autopsy brain tissue
Gene
Mutation
Transcript ID
AA Δ
Consensus
Zygosity
Disease
Inheritance
CSF1R
c.2539G>A
ENST00000515235
E847K
missense
het
Leukoencephalopathy, hereditary diffuse, with spheroids; ALSP
AD
AD, autosomal dominant.
Exp Neurobiol 2019;28:119~129
https://doi.org/10.5607/en.2019.28.1.119
© Exp Neurobiol
© 2019.
The Korean Society for Brain and Neural Sciences
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