Novel pathogenic mutations and copy number variations in the VPS13A Gene in patients with chorea-acanthocytosis

Akiyuki Tomiyasu, Masayuki Nakamura, Mio Ichiba, Shuichi Ueno, Shinji Saiki, Mizuki Morimoto, Jan Kobal, Yasufumi Kageyama, Toshio Inui, Koichi Wakabayashi, Tatsuo Yamada, Yuji Kanemori, Hans H. Jung, Haruhiko Tanaka, Satoshi Orimo, Zaid Afawi, Ilan Blatt, Jan Aasly, Hiroshi Ujike, Dusica Babovic-VuksanovicKeith A. Josephs, Rie Tohge, Guilherme Riccioppo Rodrigues, Nicolas Dupré, Hidetaka Yamada, Fusako Yokochi, Katya Kotschet, Takanobu Takei, Monika Rudzińska, Andrzej Szczudlik, Silvana Penco, Masaki Fujiwara, Kana Tojo, Akira Sano

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Medicine & Life Sciences