Publications:

Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family.

Life (Basel, Switzerland)

Rodríguez-López, Raquel R; García-Planells, Javier J; Martínez-Matilla, Marina M; Pérez-García, Cristian C; García Banacloy, Amor A; Guzmán Luján, Carola C; Zomeño Alcalá, Otilia O; Belchi Navarro, Joaquina J; Martínez-León, Juan J; Salguero-Bodes, Rafael R

Publication Date: 2022-07-12

Variant appearance in text: MYBPC3: 3197C>G; Pro1066Arg

PubMed Link: 35888124

Variant Present in the following documents:

• Main text
• life-12-01035.pdf

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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.

Journal Of Clinical Medicine

Franaszczyk, Maria M; Truszkowska, Grazyna G; Chmielewski, Przemyslaw P; Rydzanicz, Malgorzata M; Kosinska, Joanna J; Rywik, Tomasz T; Biernacka, Anna A; Spiewak, Mateusz M; Kostrzewa, Grazyna G; Stepien-Wojno, Malgorzata M; Stawinski, Piotr P; Bilinska, Maria M; Krajewski, Pawel P; Zielinski, Tomasz T; Lutynska, Anna A; Bilinska, Zofia T ZT; Ploski, Rafal R

Publication Date: 2020-01-29

Variant appearance in text: MYBPC3: 3197C>G

PubMed Link: 32013205

Variant Present in the following documents:

• Main text
• jcm-09-00370.pdf
• jcm-09-00370-s001.pdf

View BVdb publication page