Novel ITPA Variants Identified by Whole Genome Sequencing and RNA Sequencing

Nanako Omichi,Yoshihito Kishita,Mina Nakama,Hideo Sasai,Atsushi Terazawa,Emiko Kobayashi,Takuya Fushimi,Yohei Sugiyama,Keiko Ichimoto,Kazuhiro R. Nitta,Yukiko Yatsuka,Akira Ohtake,Kei Murayama,Yasushi Okazaki

JOURNAL OF HUMAN GENETICS（2023）

Cited 3|Views26

Key words

Cardiomyopathies,Gene expression,Paediatric neurological disorders,Rare variants,Human Genetics,Molecular Medicine,Gene Function,Gene Expression,Gene Therapy

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