Publications:

Role of non-coding variants in cardiovascular disease.

Journal Of Cellular And Molecular Medicine

Heshmatzad, Katayoun K; Naderi, Niloofar N; Maleki, Majid M; Abbasi, Shiva S; Ghasemi, Serwa S; Ashrafi, Nooshin N; Fazelifar, Amir Farjam AF; Mahdavi, Mohammad M; Kalayinia, Samira S

Publication Date: 2023-05-15

Variant appearance in text: MYBPC3: 2308+3G>C

PubMed Link: 37183561

Variant Present in the following documents:

• Main text

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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: 2308+3G>C

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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Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.

Frontiers In Cardiovascular Medicine

Salman, Oday F OF; El-Rayess, Hebah M HM; Abi Khalil, Charbel C; Nemer, Georges G; Refaat, Marwan M MM

Publication Date: 2018

Variant appearance in text: MYBPC3: 2308+3G>C

PubMed Link: 29998127

Variant Present in the following documents:

• Main text
• fcvm-05-00077.pdf

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Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences

Frisso, Giulia G; Detta, Nicola N; Coppola, Pamela P; Mazzaccara, Cristina C; Pricolo, Maria Rosaria MR; D'Onofrio, Antonio A; Limongelli, Giuseppe G; Calabrò, Raffaele R; Salvatore, Francesco F

Publication Date: 2016-11-10

Variant appearance in text: MYBPC3: 2308+3G>C

PubMed Link: 27834932

Variant Present in the following documents:

• Main text
• ijms-17-01883.pdf

View BVdb publication page