The variability of SMARCA4-related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

  1. Li, D.
  2. Ahrens-Nicklas, R.C.
  3. Baker, J.
  4. Bhambhani, V.
  5. Calhoun, A.
  6. Cohen, J.S.
  7. Deardorff, M.A.
  8. Fernández-Jaén, A.
  9. Kamien, B.
  10. Jain, M.
  11. Mckenzie, F.
  12. Mintz, M.
  13. Motter, C.
  14. Niles, K.
  15. Ritter, A.
  16. Rogers, C.
  17. Roifman, M.
  18. Townshend, S.
  19. Ward-Melver, C.
  20. Schrier Vergano, S.A.
Aldizkaria:
American Journal of Medical Genetics, Part A

ISSN: 1552-4833 1552-4825

Argitalpen urtea: 2020

Alea: 182

Zenbakia: 9

Orrialdeak: 2058-2067

Mota: Artikulua

DOI: 10.1002/AJMG.A.61732 GOOGLE SCHOLAR