De Novo Truncating Variants in the Last Exon of SEMA6B...

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The American Journal of Human Genetics 2020 / 3

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy

Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed
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Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2020.02.011
Date:
March, 2020
File:
PDF, 1.26 MB
2020
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