Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

  1. Rafehi, H.
  2. Szmulewicz, D.J.
  3. Bennett, M.F.
  4. Sobreira, N.L.M.
  5. Pope, K.
  6. Smith, K.R.
  7. Gillies, G.
  8. Diakumis, P.
  9. Dolzhenko, E.
  10. Eberle, M.A.
  11. Barcina, M.G.
  12. Breen, D.P.
  13. Chancellor, A.M.
  14. Cremer, P.D.
  15. Delatycki, M.B.
  16. Fogel, B.L.
  17. Hackett, A.
  18. Halmagyi, G.M.
  19. Kapetanovic, S.
  20. Lang, A.
  21. Mossman, S.
  22. Mu, W.
  23. Patrikios, P.
  24. Perlman, S.L.
  25. Rosemergy, I.
  26. Storey, E.
  27. Watson, S.R.D.
  28. Wilson, M.A.
  29. Zee, D.S.
  30. Valle, D.
  31. Amor, D.J.
  32. Bahlo, M.
  33. Lockhart, P.J.
  34. Montrer des auteurs +
Revue:
American Journal of Human Genetics

ISSN: 1537-6605,  0002-9297

Année de publication: 2019

Volumen: 105

Número: 1

Pages: 151-165

Type: Article

DOI: 10.1016/J.AJHG.2019.05.016 GOOGLE SCHOLAR lock_openAccès ouvert editor
La source de données: Scopus