Publications:

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine

Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM

Publication Date: 2020-10

Variant appearance in text: MYBPC3: 1573T>C; Tyr525His

PubMed Link: 32841044

Variant Present in the following documents:

• hcg-13-396-s001.pdf

View BVdb publication page

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Journal Of Medical Genetics

Lopes, Luis R LR; Zekavati, Anna A; Syrris, Petros P; Hubank, Mike M; Giambartolomei, Claudia C; Dalageorgou, Chrysoula C; Jenkins, Sharon S; McKenna, William W; , ; Plagnol, Vincent V; Elliott, Perry M PM

Publication Date: 2013-04

Variant appearance in text: MYBPC3: Y525H

PubMed Link: 23396983

Variant Present in the following documents:

• jmedgenet-2012-101270-s2.pdf

View BVdb publication page