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: 654+5G>C

PubMed Link: 35508642

Variant Present in the following documents:

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

View BVdb publication page

RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy.

International Journal Of Molecular Sciences

Ribeiro, Marta M; Furtado, Marta M; Martins, Sandra S; Carvalho, Teresa T; Carmo-Fonseca, Maria M

Publication Date: 2020-02-16

Variant appearance in text: MYBPC3: 654+5G>C

PubMed Link: 32079122

Variant Present in the following documents:

• Main text
• ijms-21-01329.pdf

View BVdb publication page