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Takuma Harasaki

Showing results (1-10 of 3) with videos related to

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Human Genome Variation|June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of functionTakashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, et al.
Annals of Human Genetics|July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM VariantTakuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, 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.
Pageof 1

Showing results (1-10 of 3) with videos related to

Sort By:
Pageof 1
Human Genome Variation|June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of functionTakashi Shibata, Tomoyuki Akiyama, Takuma Harasaki, et al.
Annals of Human Genetics|July 7, 2026
Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM VariantTakuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, 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.
Pageof 1