Publications:

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: CDH1: 688_832del

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

Exon expression arrays as a tool to identify new cancer genes.

Plos One

Schutte, Mieke M; Elstrodt, Fons F; Bralten, Linda B C LB; Nagel, Jord H A JH; Duijm, Elza E; Hollestelle, Antoinette A; Vuerhard, Maartje J MJ; Wasielewski, Marijke M; Peeters, Justine K JK; van der Spek, Peter P; Sillevis Smitt, Peter A PA; French, Pim J PJ

Publication Date: 2007-08-20

Variant appearance in text: CDH1: 688_832del

PubMed Link: 18688287

Variant Present in the following documents:

• Main text
• pone.0003007.pdf

View BVdb publication page