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Human Genome Variation
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June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function
Takashi 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 Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Scientific Reports
|
October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 3) with videos related to
Sort By:
Page
of 1
Human Genome Variation
|
June 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function
Takashi 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 Variant
Takuma Harasaki, Sachiko Miyamoto, Takahiro Yonekawa, et al.
Scientific Reports
|
October 21, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Kazuyuki Komatsu, Mitsuhiro Kato, Kazuo Kubota, et al.
Page
of 1