Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement

  1. Johari, M.
  2. Topf, A.
  3. Folland, C.
  4. Duff, J.
  5. Dofash, L.
  6. Marti, P.
  7. Robertson, T.
  8. Vilchez, J.
  9. Cairns, A.
  10. Harris, E.
  11. Marini-Bettolo, C.
  12. Hundallah, K.
  13. Alhashem, A.M.
  14. Al-Owain, M.
  15. Maroofian, R.
  16. Ravenscroft, G.
  17. Straub, V.
Aldizkaria:
Journal of Medical Genetics

ISSN: 1468-6244,  0022-2593

Argitalpen urtea: 2024

Mota: Artikulua

DOI: 10.1136/JMG-2024-109970 GOOGLE SCHOLAR lock_openSarbide irekia editor
Datuen iturria: Scopus