Publications:

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Scientific Reports

Jung, Jinsei J; Choi, Hyun Been HB; Koh, Young Ik YI; Rim, John Hoon JH; Choi, Hye Ji HJ; Kim, Sung Huhn SH; Lee, Jae Hyun JH; An, Jieun J; Kim, Ami A; Lee, Joon Suk JS; Joo, Sun Young SY; Yu, Seyoung S; Choi, Jae Young JY; Kang, Tong Mook TM; Gee, Heon Yung HY

Publication Date: 2018-11-09

Variant appearance in text: KCNQ1: 664_681del

PubMed Link: 30413759

Variant Present in the following documents:

• Main text
• 41598_2018_Article_34876.pdf

View BVdb publication page

Genetics of hearing loss: focus on DFNA2.

The Application Of Clinical Genetics

Dominguez, Laura M LM; Dodson, Kelley M KM

Publication Date: 2012

Variant appearance in text: KVLQT1: 664_681del

PubMed Link: 23776385

Variant Present in the following documents:

• tacg-5-097.pdf

View BVdb publication page