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Neurology. Genetics|November 2, 2020
<i>POLR1C</i> variants dysregulate splicing and cause hypomyelinating leukodystrophyHitoshi Kashiki, Heng Li, Sachiko Miyamoto, et al.
Scientific Reports|October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencingKazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.
Journal of Human Genetics|May 7, 2021
Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomaliesSachiko Miyamoto, Mitsuhiro Kato, Takuya Hiraide, et al.
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