A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

  1. Torrado, M.
  2. Fernández, G.
  3. Ganoza, C.A.
  4. Maneiro, E.
  5. García, D.
  6. Sonicheva-Paterson, N.
  7. Rosa, I.
  8. Ochoa, J.P.
  9. Santomé, L.
  10. Vasichkina, E.
  11. Monserrat, L.
Journal:
npj Genomic Medicine

ISSN: 2056-7944

Year of publication: 2021

Volume: 6

Issue: 1

Type: Article

DOI: 10.1038/S41525-021-00183-Y GOOGLE SCHOLAR lock_openOpen access editor

Sustainable development goals

Data source: Scopus