Publications:

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.

Scientific Reports

Torrado, Mario M; Maneiro, Emilia E; Lamounier Junior, Arsonval A; Fernández-Burriel, Miguel M; Sánchez Giralt, Sara S; Martínez-Carapeto, Ana A; Cazón, Laura L; Santiago, Elisa E; Ochoa, Juan Pablo JP; McKenna, William J WJ; Santomé, Luis L; Monserrat, Lorenzo L

Publication Date: 2022-05-04

Variant appearance in text: MYBPC3: 1790+5G>A

PubMed Link: 35508642

Variant Present in the following documents:

• Main text
• 41598_2022_11159_MOESM1_ESM.pdf
• 41598_2022_Article_11159.pdf

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Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

Cardiovascular Journal Of Africa

Ntusi, Ntobeko A NA; Shaboodien, Gasnat G; Badri, Motasim M; Gumedze, Freedom F; Mayosi, Bongani M BM

Publication Date: 2016

Variant appearance in text: MYBPC3: 1790+5G>A

PubMed Link: 27841901

Variant Present in the following documents:

• Main text
• cvja-27-152.pdf

View BVdb publication page