Publications:

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports

Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M

Publication Date: 2018-02-15

Variant appearance in text: KCNQ1: 1282G>A

PubMed Link: 29449639

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21442.pdf

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: D428N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page