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Genetic mutations of PRF1, UNC13D, STX11, and STXBP2 identified in 31 patients.

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posted on 2010-11-30, 01:46 authored by Kozo Nagai, Ken Yamamoto, Hiroshi Fujiwara, Jun An, Toshiki Ochi, Koichiro Suemori, Takahiro Yasumi, Hisamichi Tauchi, Katsuyoshi Koh, Maho Sato, Akira Morimoto, Toshio Heike, Eiichi Ishii, Masaki Yasukawa

UPN, unique patient number; M, male; F, female; -, not detected, NT, not tested.

In parenthesis, M means missense mutation, N means nonsense mutation, and S means splicing abnormality.

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