PMC Links for Nucleotide (Select 922960106) - PMC

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Items: 3

Select item 39252701.

Clinical utility gene card for: Vici Syndrome

Thomas Cullup, Carlo Dionisi-Vici, Ay L Kho, Shu Yau, Shehla Mohammed, Mathias Gautel, Heinz Jungbluth

Eur J Hum Genet. 2014 Mar; 22(3) Published online 2013 Jul 10. doi: 10.1038/ejhg.2013.142

PMCID:: PMC3925270

Article PDF–199K

Select item 58411962.

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Megan S. Kane, Thierry Vilboux, Lynne A. Wolfe, Paul R. Lee, Yupeng Wang, Kathi C. Huddleston, Joseph G. Vockley, John E. Niederhuber, Benjamin D. Solomon

Brain. 2016 Sep; 139(9): e52. Published online 2016 Jun 24. doi: 10.1093/brain/aww135

PMCID:: PMC5841196

Article PDF–365K

Select item 54712743.

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Hideaki Shiraishi, Yutaka Nonoda, Shinichi Magara, Jun Tohyama, Nobuhiko Okamoto, Takeshi Kumagai, Konomi Shimoda, Yoshiya Yukitake, Daigo Kajikawa, Tomohiro Morio, Ayako Hattori, Motoo Nakagawa, Naoki Ando, Ichizo Nishino, Mitsuhiro Kato, Tatsuhiko Tsunoda, Hirotomo Saitsu, Yonehiro Kanemura, Mami Yamasaki, Kenjiro Kosaki, Naomichi Matsumoto, Tamotsu Yoshimori, Shinji Saitoh

Sci Rep. 2017; 7: 3552. Published online 2017 Jun 14. doi: 10.1038/s41598-017-02840-8