HGV0000003

Access policy to this dataset

The dataset requires access control by Data Access Committee (DAC) determining access permissions. Data access requests are reviewed by the DAC, not by the HGVD. If you would like to request access to this data set, please contact: MIRAGE syndrome project, Keio University Data Access Committee.
ArchiveFormat#SampleInstituteContact PersonE-mail
HGV0000003.zipVCF4Keio UniversityTomomobu Hasegawathaseg@a6.keio.jp

Reference

Satoshi Narumi, Naoko Amano, Tomohiro Ishii, Noriyuki Katsumata, Koji Muroya, Masanori Adachi, Katsuaki Toyoshima, Yukichi Tanaka, Ryuji Fukuzawa, Kenichi Miyako, Saori Kinjo, Shouichi Ohga, Kenji Ihara, Hirosuke Inoue, Tadamune Kinjo, Toshiro Hara, Miyuki Kohno, Shiro Yamada, Hironaka Urano, Yosuke Kitagawa, Koji Tsugawa, Asumi Higa, Masakazu Miyawaki, Takahiro Okutani, Zenro Kizaki, Hiroyuki Hamada, Minako Kihara, Kentaro Shiga, Tetsuya Yamaguchi, Manabu Kenmochi, Hiroyuki Kitajima, Maki Fukami, Atsushi Shimizu, Jun Kudoh, Shinsuke Shibata, Hideyuki Okano, Noriko Miyake, Naomichi Matsumoto & Tomonobu Hasegawa
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genetics 48, 792-797 (2016) doi:10.1038/ng.3569