Publications:

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.

Heart (British Cardiac Society)

Shimamoto, Keiko K; Ohno, Seiko S; Kato, Koichi K; Takayama, Koichiro K; Sonoda, Keiko K; Fukuyama, Megumi M; Makiyama, Takeru T; Okamura, Satomi S; Asakura, Koko K; Imanishi, Noriaki N; Kato, Yoshiaki Y; Sakaguchi, Heima H; Kamakura, Tsukasa T; Wada, Mitsuru M; Yamagata, Kenichiro K; Ishibashi, Kohei K; Inoue, Yuko Y; Miyamoto, Koji K; Nagase, Satoshi S; Kusano, Kengo K; Horie, Minoru M; Aiba, Takeshi T

Publication Date: 2022-05-12

Variant appearance in text: PS1: 1372G>A

PubMed Link: 35135837

Variant Present in the following documents:

• heartjnl-2021-320220supp001.pdf

View BVdb publication page

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research

Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J

Publication Date: 2021

Variant appearance in text: PSEN1: 1372G>A; D458N

PubMed Link: 34102969

Variant Present in the following documents:

• CAR-18-265_SD1.pdf

View BVdb publication page