Publications:

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 2155C>G; Arg719Gly

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

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Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

Basic Research In Cardiology

Tripathi, Snigdha S; Schultz, Imke I; Becker, Edgar E; Montag, Judith J; Borchert, Bianca B; Francino, Antonio A; Navarro-Lopez, Francisco F; Perrot, Andreas A; Özcelik, Cemil C; Osterziel, Karl-Josef KJ; McKenna, William J WJ; Brenner, Bernhard B; Kraft, Theresia T

Publication Date: 2011-11

Variant appearance in text: MYH7: R719G

PubMed Link: 21769673

Variant Present in the following documents:

• Main text
• 395_2011_Article_205.pdf

View BVdb publication page