Publications:

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: TTN: 55432+5G>C

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian Journal Of Pediatrics

Wu, Shao-Wen SW; Li, Lin L; Feng, Fan F; Wang, Li L; Kong, Yuan-Yuan YY; Liu, Xiao-Wei XW; Yin, Chenghong C

Publication Date: 2021-07-21

Variant appearance in text: TTN: 55432+5G>C; rs754717390

PubMed Link: 34289880

Variant Present in the following documents:

• 13052_2021_1112_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page