Table_2.xls (5.5 kB)
Diseases transmitted in a dominant fashion and associated with aggregation-prone polymorphisms that are not subject to NMD.
dataset
posted on 2013-02-19, 19:47 authored by Craig Alan Gough, Keiichi Homma, Yumi Yamaguchi-Kabata, Makoto K. Shimada, Ranajit Chakraborty, Yasuyuki Fujii, Hisakazu Iwama, Shinsei Minoshima, Shigetaka Sakamoto, Yoshiharu Sato, Yoshiyuki Suzuki, Masahito Tada-Umezaki, Ken Nishikawa, Tadashi Imanishi, Takashi Gojoboria
The numbers of nonsense SNPs and indels that were annotated in this study are shown.
bThis is a frameshifting indel.
cDisease information from OMIM is shown (MIM number in parentheses).