Publications:

Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family.

Heliyon

Dong, Jingyun J; Williams, Nori N; Cerrone, Marina M; Borck, Christopher C; Wang, Dawei D; Zhou, Bo B; Eng, Lucy S LS; Subbotina, Ekaterina E; Um, Sung Yon SY; Lin, Ying Y; Ruiter, Kevin K; Rojas, Lisa L; Coetzee, William A WA; Sampson, Barbara A BA; Tang, Yingying Y

Publication Date: 2018-12

Variant appearance in text: KCNH2: Q725T

PubMed Link: 30582040

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page