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European Journal of Human Genetics : EJHG|September 9, 2020
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndromeShereen G Ghosh, Marcello Scala, Christian Beetz, et al.
Nature Genetics|January 12, 2023
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical developmentChanguk Chung, Xiaoxu Yang, Taejeong Bae, et al.
Genome Biology|March 30, 2021
Comprehensive identification of somatic nucleotide variants in human brain tissueYifan Wang, Taejeong Bae, Jeremy Thorpe, et al.
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