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

  1. Torrado, M.
  2. Maneiro, E.
  3. Lamounier Junior, A.
  4. Fernández-Burriel, M.
  5. Sánchez Giralt, S.
  6. Martínez-Carapeto, A.
  7. Cazón, L.
  8. Santiago, E.
  9. Ochoa, J.P.
  10. McKenna, W.J.
  11. Santomé, L.
  12. Monserrat, L.
Journal:
Scientific Reports

ISSN: 2045-2322

Year of publication: 2022

Volume: 12

Issue: 1

Type: Article

DOI: 10.1038/S41598-022-11159-Y GOOGLE SCHOLAR lock_openOpen access editor