Publications:

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Biomedicines

Homma, Kazuaki K

Publication Date: 2022-09-12

Variant appearance in text: Kv7.1: 1040T>G

PubMed Link: 36140355

Variant Present in the following documents:

• biomedicines-10-02254.pdf

View BVdb publication page

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Human Genome Variation

Matsuda, Shinichi S; Ohnuki, Yuko Y; Okami, Mayuri M; Ochiai, Eriko E; Yamada, Shiro S; Takahashi, Kazumi K; Osawa, Motoki M; Okami, Kenji K; Iida, Masahiro M; Mochizuki, Hiroyuki H

Publication Date: 2020

Variant appearance in text: LQT1: 1040T>G

PubMed Link: 33082985

Variant Present in the following documents:

• Main text
• 41439_2020_Article_121.pdf

View BVdb publication page